Full data view for gene PRNP

Information The variants shown are described using the NM_000311.3 transcript reference sequence.

120 entries on 2 pages. Showing entries 1 - 100.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

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./. 2 c.116C>T r.(?) p.(Pro39Leu) - - Unknown g.4679982C>T Oldoni E et al. (2016) PRNP_000043 - ? ? FTLD Oldoni E et al. (2016) Italian - 1 XY Liu
./. 2 c.142C>A r.(?) p.(Arg48Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680008C>A Jones M1, Odunsi S1, du Plessis D1, Vincent A1, Bishop M1, Head MW1, Ironside JW1, Gow D2.(2014) PRNP_000036 - ? ? GSS Jones M1, Odunsi S1, du Plessis D1, Vincent A1, Bishop M1, Head MW1, Ironside JW1, Gow D2.(2014) - - 1 Y Yang
./. 2 c.160_183del24 r.(?) p.(Pro84_Gln91del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown g.4680026_4680049del24 Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) PRNP_000037 - ? ? CJD Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) - - 1 Y Yang
./. 2 c.184_207del24 r.(?) p.(Pro84_Gln91del) VariO:0141 DNA deletion VariO:0016 sequence retaining amino acid deletion Unknown g.4680050_4680073del24 Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) PRNP_000038 - ? ? CJD Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) - - 1 Y Yang
./. 2 c.250C>T r.(?) p.(Pro84Ser) - - Unknown g.4680116C>T Jones M et al. (2014) PRNP_000042 - ? ? GSS Jones M et al. (2014) - - 1 XY Liu
./. 2 c.305C>T r.(?) p.(Pro102Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680171C>T Hsiao K1, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB.(1989) PRNP_000024 XYZ19940216 ? ? GSS Hsiao K1, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB.(1989) - - 1 Y Yang
./. 2 c.305C>T r.(?) p.(Pro102Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680171C>T Kojovi? M, Glava? D, O?ek B, Zupan A, Popovi? M.(2011) PRNP_000024 - ? ? GSS Kojovi? M, Glava? D, O?ek B, Zupan A, Popovi? M.(2011) - - 1 Y Yang
./. 2 c.305C>T r.(?) p.(Pro102Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680171C>T Monaco S1, Fiorini M, Farinazzo A, Ferrari S, Gelati M, Piccardo P, Zanusso G, Ghetti B.(2012) PRNP_000024 - ? ? GSS Monaco S1, Fiorini M, Farinazzo A, Ferrari S, Gelati M, Piccardo P, Zanusso G, Ghetti B.(2012) - - 1 Y Yang
./. 2 c.305C>T r.(?) p.(Pro102Leu) - - Unknown g.4680171C>T Riudavets MA et al. (2014) PRNP_000024 - ? ? GSS Riudavets MA et al. (2014) - - 1 XY Liu
./. 2 c.305C>T r.(?) p.(Pro102Leu) - - Unknown g.4680171C>T Ando R et al. (2016) PRNP_000024 - ? ? GSS Ando R et al. (2016) - - 1 XY Liu
./. 2 c.305C>T r.(?) p.(Pro102Leu) - - Unknown g.4680171C>T Pirisinu L et al. (2016) PRNP_000024 - ? ? GSS Pirisinu L et al. (2016) - - 1 XY Liu
./. 2 c.305C>T r.(?) p.(Pro102Leu) - - Unknown g.4680171C>T Deters KD et al. (2016) PRNP_000024 - ? ? GSS Deters KD et al. (2016) - - 1 XY Liu
./. 2 c.305C>T r.(?) p.(Pro102Leu) - - Unknown g.4680171C>T Sugiyama A et al. (2017) PRNP_000024 - ? ? GSS Sugiyama A et al. (2017) - - 1 XY Liu
./. 2 c.305C>T r.(?) p.(Pro102Leu) - - Unknown g.4680171C>T Long L et al. (2017) PRNP_000024 - ? ? GSS Long L et al. (2017) southern China - 1 XY Liu
./. 2 c.313C>A r.(?) p.(Pro105Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680179C>A Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011) PRNP_000019 - ? ? CJD Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011) - - 1 Y Yang
./. 2 c.313C>A r.(?) p.(Pro105Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680179C>A Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011) PRNP_000019 - ? ? CJD Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011) - - 1 Y Yang
./. 2 c.313C>T r.(?) p.(Pro105Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680179C>T Tunnell E1, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.(2008) PRNP_000031 - ? ? GSS Tunnell E1, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.(2008) - - 1 Y Yang
./. 2 c.314C>T r.(?) p.(Pro105Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680180C>T Yamada M1, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J, et al.(1993) PRNP_000027 - ? ? GSS Yamada M1, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J, et al.(1993) - - 1 Y Yang
./. 2 c.314C>T r.(?) p.(Pro105Leu) - - Unknown g.4680180C>T Mano KK et al. (2016) PRNP_000027 - ? ? GSS, PD Mano KK et al. (2016) - - 1 XY Liu
./. 2 c.341G>T r.(?) p.(Gly114Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680207G>T Ye J1, Han J, Shi Q, Zhang BY, Wang GR, Tian C, Gao C, Chen JM, Li CJ, Liu Z, Li XZ, Zhang LZ, Dong XP.(2008) PRNP_000018 - ? ? CJD Ye J1, Han J, Shi Q, Zhang BY, Wang GR, Tian C, Gao C, Chen JM, Li CJ, Liu Z, Li XZ, Zhang LZ, Dong XP.(2008) - - 1 Y Yang
./. 2 c.341G>T r.(?) p.(Gly114Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680207G>T Tian C1, Liu D, Chen C, Xu Y, Gong HS, Chen C, Shi Q, Zhang BY, Han J, Dong XP.(2013) PRNP_000018 - ? ? CJD Tian C1, Liu D, Chen C, Xu Y, Gong HS, Chen C, Shi Q, Zhang BY, Han J, Dong XP.(2013) - - 1 Y Yang
./. 2 c.350C>T r.(?) p.(Ala117Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680216C>T Mallucci GR1, Campbell TA, Dickinson A, Beck J, Holt M, Plant G, de Pauw KW, Hakin RN, Clarke CE, Howell S, Davies-Jones GA, Lawden M, Smith CM, Ince P, Ironside JW, Bridges LR, Dean A, Weeks I, Collinge J.(1999) PRNP_000011 - ? ? CJD "Mallucci GR1, Campbell TA, Dickinson A, Beck J, Holt M, Plant G, de Pauw KW, Hakin RN, Clarke CE, Howell S, Davies-Jones GA, Lawden M, Smith CM, Ince P, Ironside JW, Bridges LR(1999) - - 1 Y Yang
./. 2 c.350C>T r.(?) p.(Ala117Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680216C>T Doh-ura K1, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y.(1989) PRNP_000011 - ? ? GSS Doh-ura K1, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y.(1989) - - 1 Y Yang
./. 2 c.350C>T r.(?) p.(Ala117Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680216C>T Tranchant C1, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter JM.(1991) PRNP_000011 - ? ? GSS Tranchant C1, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter JM.(1991) - - 1 Y Yang
./. 2 c.350C>T r.(?) p.(Ala117Val) - - Unknown g.4680216C>T Pirisinu L et al. (2016) PRNP_000011 - ? ? GSS Pirisinu L et al. (2016) - - 1 XY Liu
./. 2 c.379G>A r.(?) p.(Gly127Ser) - - Unknown g.4680245G>A Ch'ng GS et al.(2015) PRNP_000041 - ? ? AD Ch'ng GS et al.(2015) - might damage 1 XY Liu
./. 2 c.385A>G r.(?) p.(Met129Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680251A>G Collinge J1, Palmer MS, Dryden AJ.(1991) PRNP_000001 - ? ? CJD Collinge J1, Palmer MS, Dryden AJ.(1991) - - 1 Y Yang
./. 2 c.385A>G r.(?) p.(Met129Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680251A>G Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J.(1991) PRNP_000001 - ? ? GSS Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J.(1991) - - 1 Y Yang
./. 2 c.385A>G r.(?) p.(Met129Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680251A>G Cervenáková L1, Goldfarb LG, Garruto R, Lee HS, Gajdusek DC, Brown P.(1998) PRNP_000001 - ? ? KURU Cervenáková L1, Goldfarb LG, Garruto R, Lee HS, Gajdusek DC, Brown P.(1998) - - 1 Y Yang
./. 2 c.392G>T r.(?) p.(Gly131Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680258G>T Panegyres PK1, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.(2001) PRNP_000028 - ? ? GSS Panegyres PK1, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.(2001) - - 1 Y Yang
./. 2 c.392G>T r.(?) p.(Gly131Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680258G>T Jansen C1, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ.(2011) PRNP_000028 - ? ? GSS Jansen C1, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ.(2011) Dutch - 1 Y Yang
./. 2 c.398C>T r.(?) p.(Ala133Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680264C>T Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007) PRNP_000030 - ? ? GSS Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007) - - 1 Y Yang
./. 2 c.398C>T r.(?) p.(Ala133Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680264C>T Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007) PRNP_000030 - ? ? GSS Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007) - - 1 Y Yang
./. 2 c.435T>A r.(?) p.(Tyr145*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.4680301T>A Kitamoto T1, Iizuka R, Tateishi J.(1993) PRNP_000032 - ? ? GSS Kitamoto T1, Iizuka R, Tateishi J.(1993) - - 1 Y Yang
./. 2 c.435T>A r.(?) p.(Tyr145*) - - Unknown g.4680301T>A Zhang W et al. (2016) PRNP_000032 - ? ? AD Zhang W et al. (2016) - associate 1 XY Liu
./. 2 c.443G>A r.(?) p.(Arg148His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680309G>A Krebs B1, Lederer RM, Windl O, Grasbon-Frodl EM, Zerr I, Kretzschmar HA.(2005) PRNP_000014 - ? ? CJD Krebs B1, Lederer RM, Windl O, Grasbon-Frodl EM, Zerr I, Kretzschmar HA.(2005) - - 1 Y Yang
./. 2 c.478C>T r.(?) p.(Gln160*) - - Unknown g.4680344C>T Zhang W et al. (2016) PRNP_000040 - ? ? AD Zhang W et al. (2016) - associate 1 XY Liu
./. 2 c.489C>A r.(?) p.(Tyr163*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.4680355C>A Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014) PRNP_000039 - ? ? HSAN Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014) - - 1 Y Yang
./. 2 c.512A>G r.(?) p.(Asn171Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680378A>G Appleby BS1, Appleby KK, Hall RC, Wallin MT.(2010) PRNP_000012 - ? ? CJD Appleby BS1, Appleby KK, Hall RC, Wallin MT.(2010) - - 1 Y Yang
./. 2 c.527T>G r.(?) p.(Val176Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680393T>G Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013) PRNP_000022 - ? ? CJD Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013) - - 1 Y Yang
./. 2 c.527T>G r.(?) p.(Val176Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680393T>G Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013) PRNP_000022 - ? ? GSS Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991) PRNP_000002 - ? ? CJD Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Xie WL1, Shi Q, Xia SL, Zhang BY, Gong HS, Wang SB, Xu Y, Guo Y, Tian C, Zhang J, Xu BL, Liu Y, Dong XP.(2013) PRNP_000002 - ? ? CJD Xie WL1, Shi Q, Xia SL, Zhang BY, Gong HS, Wang SB, Xu Y, Guo Y, Tian C, Zhang J, Xu BL, Liu Y, Dong XP.(2013) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Marcon G1, Indaco A, Di Fede G, Suardi S, Finato N, Moretti V, Micoli S, Fociani P, Zerbi P, Pincherle A, Redaelli V, Tagliavini F, Giaccone G.(2014) PRNP_000002 - ? ? CJD Marcon G1, Indaco A, Di Fede G, Suardi S, Finato N, Moretti V, Micoli S, Fociani P, Zerbi P, Pincherle A, Redaelli V, Tagliavini F, Giaccone G.(2014) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Kretzschmar HA1, Neumann M, Stavrou D.(1995) PRNP_000002 - ? ? FFI Kretzschmar HA1, Neumann M, Stavrou D.(1995) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Gemignani A1, Laurino M, Provini F, Piarulli A, Barletta G, d'Ascanio P, Bedini R, Lodi R, Manners DN, Allegrini P, Menicucci D, Cortelli P.(2012) PRNP_000002 - ? ? FFI Gemignani A1, Laurino M, Provini F, Piarulli A, Barletta G, d'Ascanio P, Bedini R, Lodi R, Manners DN, Allegrini P, Menicucci D, Cortelli P.(2012) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Marcon G1, Indaco A, Di Fede G, Suardi S, Finato N, Moretti V, Micoli S, Fociani P, Zerbi P, Pincherle A, Redaelli V, Tagliavini F, Giaccone G.(2014) PRNP_000002 - ? ? FFI Marcon G1, Indaco A, Di Fede G, Suardi S, Finato N, Moretti V, Micoli S, Fociani P, Zerbi P, Pincherle A, Redaelli V, Tagliavini F, Giaccone G.(2014) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Chen S1, Guan M2, Shang JK1, He S1, Zhang ML1, Ma MM1, Zhang JW3.(2015) PRNP_000002 - ? ? FFI Chen S1, Guan M2, Shang JK1, He S1, Zhang ML1, Ma MM1, Zhang JW3.(2015) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Feng B1, Wang Z1, Liu T1, Jin R1, Wang S1, Wang W1, Xiao G2, Zhou Z3.(2014) PRNP_000002 - ? ? FFI Feng B1, Wang Z1, Liu T1, Jin R1, Wang S1, Wang W1, Xiao G2, Zhou Z3.(2014) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680398G>A Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991) PRNP_000002 - ? ? GSS Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991) - - 1 Y Yang
./. 2 c.532G>A r.(?) p.(Asp178Asn) - - Unknown g.4680398G>A Zhang W et al. (2016) PRNP_000002 - ? ? AD Zhang W et al. (2016) - associate 1 XY Liu
./. 2 c.532G>A r.(?) p.(Asp178Asn) - - Unknown g.4680398G>A Chen S et al. (2015) PRNP_000002 - ? ? CJD Chen S et al. (2015) - - 1 XY Liu
./. 2 c.532G>A r.(?) p.(Asp178Asn) - - Unknown g.4680398G>A Lee MJ et al. (2014) PRNP_000002 - ? ? FFI Lee MJ et al. (2014) Korean - 1 XY Liu
./. 2 c.532G>A r.(?) p.(Asp178Asn) - - Unknown g.4680398G>A Megelin T et al. (2017) PRNP_000002 - ? ? FFI Megelin T et al. (2017) - - 1 XY Liu
./. 2 c.538G>A r.(?) p.(Val180Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680404G>A Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993) PRNP_000005 - ? ? CJD Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993) - - 1 Y Yang
./. 2 c.538G>A r.(?) p.(Val180Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680404G>A Qina T1, Sanjo N1, Hizume M1, Higuma M1, Tomita M2, Atarashi R3, Satoh K3, Nozaki I4, Hamaguchi T5, Nakamura Y6, Kobayashi A7, Kitamoto T7, Murayama S8, Murai H9, Yamada M5, Mizusawa H1.(2014) PRNP_000005 - ? ? CJD "Qina T1, Sanjo N1, Hizume M1, Higuma M1, Tomita M2, Atarashi R3, Satoh K3, Nozaki I4, Hamaguchi T5, Nakamura Y6, Kobayashi A7, Kitamoto T7, Murayama S8, Murai H9, Yamada M5(2014) - - 1 Y Yang
./. 2 c.538G>A r.(?) p.(Val180Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680404G>A Shi Q1, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP.(2014) PRNP_000005 - ? ? CJD Shi Q1, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP.(2014) - - 1 Y Yang
./. 2 c.538G>A r.(?) p.(Val180Ile) - - Unknown g.4680404G>A Peden AH et al. (2014) PRNP_000005 - ? ? CJD Peden AH et al. (2014) - - 1 XY Liu
./. 2 c.538G>A r.(?) p.(Val180Ile) - - Unknown g.4680404G>A Shi Q et al. (2014) PRNP_000005 - ? ? CJD Shi Q et al. (2014) Chinese - 1 XY Liu
./. 2 c.538G>A r.(?) p.(Val180Ile) - - Unknown g.4680404G>A Amano Y et al. (2015) PRNP_000005 - ? ? CJD Amano Y et al. (2015) - - 1 XY Liu
./. 2 c.538G>A r.(?) p.(Val180Ile) - - Unknown g.4680404G>A Koh K et al. (2015) PRNP_000005 - ? ? CJD Koh K et al. (2015) - - 1 XY Liu
./. 2 c.538G>A r.(?) p.(Val180Ile) - - Unknown g.4680404G>A Lee SM et al. (2016) PRNP_000005 - ? ? CJD Lee SM et al. (2016) - - 1 XY Liu
./. 2 c.560A>G r.(?) p.(His187Arg) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680426A>G Bütefisch CM1, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.(2000) PRNP_000029 - ? ? GSS Bütefisch CM1, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.(2000) - - 1 Y Yang
./. 2 c.563C>A r.(?) p.(Thr188Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680429C>A Roeber S1, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schr?ter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.(2008) PRNP_000017 - ? ? CJD Roeber S1, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schr?ter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.(2008) - - 1 Y Yang
./. 2 c.563C>A r.(?) p.(Thr188Lys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680429C>A Chen C1, Shi Q, Zhou W, Zhang XC, Dong JH, Hu XQ, Song XN, Liu AF, Tian C, Wang JC, Gao C, Zhang J, Han J, Dong XP.(2013) PRNP_000017 - ? ? CJD Chen C1, Shi Q, Zhou W, Zhang XC, Dong JH, Hu XQ, Song XN, Liu AF, Tian C, Wang JC, Gao C, Zhang J, Han J, Dong XP.(2013) - - 1 Y Yang
./. 2 c.563C>G r.(?) p.(Thr188Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680429C>G Tartaglia MC1, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.(2010) PRNP_000013 - ? ? CJD Tartaglia MC1, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.(2010) - - 1 Y Yang
./. 2 c.563C>G r.(?) p.(Thr188Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680429C>G Roeber S1, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schr?ter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.(2008) PRNP_000013 - ? ? CJD Roeber S1, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schr?ter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.(2008) - - 1 Y Yang
./. 2 c.578C>T r.(?) p.(Thr193Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680444C>T Kotta K1, Paspaltsis I, Bostantjopoulou S, Latsoudis H, Plaitakis A, Kazis D, Collinge J, Sklaviadis T.(2006) PRNP_000015 - ? ? CJD Kotta K1, Paspaltsis I, Bostantjopoulou S, Latsoudis H, Plaitakis A, Kazis D, Collinge J, Sklaviadis T.(2006) - - 1 Y Yang
./. 2 c.586G>A r.(?) p.(Glu196Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680452G>A Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000) PRNP_000008 - ? ? CJD Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000) - - 1 Y Yang
./. 2 c.586G>A r.(?) p.(Glu196Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680452G>A Schelzke G1, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, Kretzschmar HA, Zerr I.(2011) PRNP_000008 - ? ? CJD Schelzke G1, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, Kretzschmar HA, Zerr I.(2011) - - 1 Y Yang
./. 2 c.586G>A r.(?) p.(Glu196Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680452G>A Shi Q1, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP.(2011) PRNP_000008 - ? ? CJD Shi Q1, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP.(2011) Chinese - 1 Y Yang
./. 2 c.586G>A r.(?) p.(Glu196Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680452G>A Cheng CJ, Daggett V.(2014) PRNP_000008 - ? ? CJD Cheng CJ, Daggett V.(2014) - - 1 Y Yang
./. 2 c.586G>A r.(?) p.(Glu196Lys) - - Unknown g.4680452G>A Cheng CJ et al. (2014) PRNP_000008 - ? ? GSS Cheng CJ et al. (2014) - - 1 XY Liu
./. 2 c.587A>C r.(?) p.(Glu196Ala) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.4680453A>C Zhang H1, Wang M2, Wu L3, Zhang H1, Jin T1, Wu J1, Sun L4.(2014) PRNP_000021 - ? ? CJD Zhang H1, Wang M2, Wu L3, Zhang H1, Jin T1, Wu J1, Sun L4.(2014) - - 1 Y Yang
./. 2 c.587A>C r.(?) p.(Glu196Ala) - - Unknown g.4680453A>C Shi Q et al. (2016) PRNP_000021 - ? ? CJD Shi Q et al. (2016) Chinese - 1 XY Liu
./. 2 c.593T>C r.(?) p.(Phe198Ser) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.4680459T>C Hsiao K1, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB.(1992) PRNP_000025 - ? ? GSS Hsiao K1, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB.(1992) - - 1 Y Yang
./. 2 c.593T>C r.(?) p.(Phe198Ser) - - Unknown g.4680459T>C Pirisinu L et al. (2016) PRNP_000025 - ? ? GSS Pirisinu L et al. (2016) - - 1 XY Liu
./. 2 c.593T>C r.(?) p.(Phe198Ser) - - Unknown g.4680459T>C Deters KD et al. (2016) PRNP_000025 - ? ? GSS Deters KD et al. (2016) - - 1 XY Liu
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Goldgaber D1, Goldfarb LG, Brown P, Asher DM, Brown WT, Lin S, Teener JW, Feinstone SM, Rubenstein R, Kascsak RJ, et al.(1989) PRNP_000003 - ? ? CJD Goldgaber D1, Goldfarb LG, Brown P, Asher DM, Brown WT, Lin S, Teener JW, Feinstone SM, Rubenstein R, Kascsak RJ, et al.(1989) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Cohen OS1, Chapman J, Lee H, Nitsan Z, Appel S, Hoffman C, Rosenmann H, Korczyn AD, Prohovnik I.(2011) PRNP_000003 - ? ? CJD Cohen OS1, Chapman J, Lee H, Nitsan Z, Appel S, Hoffman C, Rosenmann H, Korczyn AD, Prohovnik I.(2011) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013) PRNP_000003 - ? ? CJD Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Lee SM, Chung M, Hwang KJ, Ju YR, Hyeon JW, Park JS, Kim CK, Choi S, Lee J, Kim SY1.(2014) PRNP_000003 - ? ? CJD Lee SM, Chung M, Hwang KJ, Ju YR, Hyeon JW, Park JS, Kim CK, Choi S, Lee J, Kim SY1.(2014) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Cohen OS1, Chapman J, Korczyn AD, Warman-Alaluf N, Orlev Y, Givaty G, Nitsan Z, Appel S, Rosenmann H, Kahana E, Shechter-Amir D.(2015) PRNP_000003 - ? ? CJD Cohen OS1, Chapman J, Korczyn AD, Warman-Alaluf N, Orlev Y, Givaty G, Nitsan Z, Appel S, Rosenmann H, Kahana E, Shechter-Amir D.(2015) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Cohen OS1, Chapman J, Korczyn AD, Nitsan Z, Appel S, Hoffmann C, Rosenmann H, Kahana E, Lee H.(2014) PRNP_000003 - ? ? CJD Cohen OS1, Chapman J, Korczyn AD, Nitsan Z, Appel S, Hoffmann C, Rosenmann H, Kahana E, Lee H.(2014) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Minikel EV1, Zerr I2, Collins SJ3, Ponto C4, Boyd A3, Klug G3, Karch A4, Kenny J5, Collinge J5, Takada LT6, Forner S6, Fong JC6, Mead S5, Geschwind MD6.(2014) PRNP_000003 - ? ? CJD Minikel EV1, Zerr I2, Collins SJ3, Ponto C4, Boyd A3, Klug G3, Karch A4, Kenny J5, Collinge J5, Takada LT6, Forner S6, Fong JC6, Mead S5, Geschwind MD6.(2014) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Salazar R1, Cerghet M, Ramachandran V.(2014) PRNP_000003 - ? ? CJD Salazar R1, Cerghet M, Ramachandran V.(2014) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680464G>A Chapman J1, Arlazoroff A, Goldfarb LG, Cervenakova L, Neufeld MY, Werber E, Herbert M, Brown P, Gajdusek DC, Korczyn AD.(1996) PRNP_000003 - ? ? FFI Chapman J1, Arlazoroff A, Goldfarb LG, Cervenakova L, Neufeld MY, Werber E, Herbert M, Brown P, Gajdusek DC, Korczyn AD.(1996) - - 1 Y Yang
./. 2 c.598G>A r.(?) p.(Glu200Lys) - - Unknown g.4680464G>A Cohen OS et al. (2016) PRNP_000003 - ? ? CJD Cohen OS et al. (2016) - - 1 XY Liu
./. 2 c.605A>G r.(?) p.(Asp202Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680471A>G Heinemann U1, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.(2008) PRNP_000016 - ? ? CJD Heinemann U1, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.(2008) - - 1 Y Yang
./. 2 c.607G>A r.(?) p.(Val203Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680473G>A Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000) PRNP_000009 - ? ? CJD Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000) - - 1 Y Yang
./. 2 c.607G>A r.(?) p.(Val203Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680473G>A Shi Q1, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.(2013) PRNP_000009 - ? ? CJD Shi Q1, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.(2013) - - 1 Y Yang
./. 2 c.607G>A r.(?) p.(Val203Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680473G>A Komatsu J1, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M.(2014) PRNP_000009 - ? ? CJD Komatsu J1, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M.(2014) - - 1 Y Yang
./. 2 c.607G>A r.(?) p.(Val203Ile) - - Unknown g.4680473G>A Komatsu J et al. (2014) PRNP_000009 - ? ? CJD Komatsu J et al. (2014) - - 1 XY Liu
./. 2 c.607G>A r.(?) p.(Val203Ile) - - Unknown g.4680473G>A Cistaro A et al. (2017) PRNP_000009 - ? ? CJD Cistaro A et al. (2017) - - 1 XY Liu
./. 2 c.623G>A r.(?) p.(Arg208His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680489G>A Mastrianni JA1, Iannicola C, Myers RM, DeArmond S, Prusiner SB.(1996) PRNP_000007 - ? ? CJD Mastrianni JA1, Iannicola C, Myers RM, DeArmond S, Prusiner SB.(1996) - - 1 Y Yang
./. 2 c.623G>A r.(?) p.(Arg208His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680489G>A Chen C1, Shi Q, Tian C, Li Q, Zhou W, Gao C, Han J, Dong XP.(2011) PRNP_000007 - ? ? CJD Chen C1, Shi Q, Tian C, Li Q, Zhou W, Gao C, Han J, Dong XP.(2011) Chinese - 1 Y Yang
./. 2 c.623G>A r.(?) p.(Arg208His) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680489G>A Matěj R1, Kovacs GG, Johanidesová S, Keller J, Matěj?ková M, Nováková J, Sigut V, Keller O, Rusina R.(2012) PRNP_000007 - ? ? CJD Matěj R1, Kovacs GG, Johanidesová S, Keller J, Matěj?ková M, Nováková J, Sigut V, Keller O, Rusina R.(2012) - - 1 Y Yang
./. 2 c.628G>A r.(?) p.(Val210Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680494G>A Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) PRNP_000004 - ? ? CJD Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) - - 1 Y Yang
./. 2 c.628G>A r.(?) p.(Val210Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680494G>A Biljan I1, Ilc G, Giachin G, Raspadori A, Zhukov I, Plavec J, Legname G.(2011) PRNP_000004 - ? ? CJD Biljan I1, Ilc G, Giachin G, Raspadori A, Zhukov I, Plavec J, Legname G.(2011) - - 1 Y Yang
./. 2 c.628G>A r.(?) p.(Val210Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.4680494G>A Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013) PRNP_000004 - ? ? CJD Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013) - - 1 Y Yang
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