Full data view for gene SMN1

Information The variants shown are described using the NM_000344.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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./. 1 c.5C>G r.(?) p.(Ala2Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70220935C>G Parsons DW1, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW.(1998) SMN1_000006 - ? ? SMA Parsons DW1, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW.(1998) - - 1 Y Yang
./. 1 c.5C>G r.(?) p.(Ala2Gly) - - Unknown g.70220935C>G Bai JL et al. (2014) SMN1_000006 - ? ? SMA Bai JL et al. (2014) Chinese - 1 XY Liu
./. 1 c.5C>T r.(?) p.(Ala2Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.70220935C>T Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) SMN1_000023 - ? ? SMA Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - 1 Y Yang
./. 1 c.22_23insA r.(?) p.(Ser8Lysfs*23) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.70220952_70220953insA Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) SMN1_000020 - ? ? SMA Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - 1 Y Yang
./. 1 c.22_23insA r.(?) p.(Ser8Lysfs*23) - - Unknown g.70220952_70220953insA Bai JL et al. (2014) SMN1_000020 - ? ? SMA Bai JL et al. (2014) Chinese - 1 XY Liu
./. 1 c.40G>T r.(?) p.(Glu14*) - - Unknown g.70220970G>T Bai JL et al. (2014) SMN1_000035 - ? ? SMA Bai JL et al. (2014) Chinese - 1 XY Liu
./. 1 c.43C>T r.(?) p.(Gln15*) - - Unknown g.70220973C>T Bai JL et al. (2014) SMN1_000036 - ? ? SMA Bai JL et al. (2014) Chinese - 1 XY Liu
./. 1 c.48_55dup r.(?) p.(Val19Glyfs*24) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.70220978_70220985dup Kirwin SM1, Vinette KM1, Gonzalez IL1, Abdulwahed HA2, Al-Sannaa N2, Funanage VL1.(2013) SMN1_000025 - ? ? SMA Kirwin SM1, Vinette KM1, Gonzalez IL1, Abdulwahed HA2, Al-Sannaa N2, Funanage VL1.(2013) - - 1 Y Yang
./. 1 c.56delT r.(?) p.(Val19Glyfs*21) - - Unknown g.70220986delT Bai JL et al. (2014) SMN1_000037 - ? ? SMA Bai JL et al. (2014) Chinese - 1 XY Liu
./. 2 c.88G>A r.(?) p.(Asp30Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.70234672G>A Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) SMN1_000011 - ? ? SMA Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - 1 Y Yang
./. 2 c.131A>T r.(?) p.(Asp44Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70234715A>T Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) SMN1_000012 - ? ? SMA Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - 1 Y Yang
./. 4 c.275G>C r.(?) p.(Trp92Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70238186G>C Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) SMN1_000024 - ? ? SMA Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - 1 Y Yang
./. 4 c.275G>C r.(?) p.(Trp92Ser) - - Unknown g.70238186G>C Takarada T et al. (2017) SMN1_000024 - ? ? SMA Takarada T et al. (2017) - - 1 XY Liu
./. 4 c.283G>C r.(?) p.(Gly95Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70238194G>C Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) SMN1_000034 - ? ? SMA Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - 1 Y Yang
./. 4 c.286delG r.(?) p.(Asp96Thrfs*53) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.70238197delG Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) SMN1_000033 - ? ? SMA Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - 1 Y Yang
./. 4 c.305G>A r.(?) p.(Trp102*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation Unknown g.70238216G>A Sossi V1, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.(2001) SMN1_000009 - ? ? SMA Sossi V1, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.(2001) - - 1 Y Yang
./. 4 c.332C>G r.(?) p.(Ala111Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70238243C>G Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) SMN1_000013 - ? ? SMA Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - 1 Y Yang
./. 4 c.332C>G r.(?) p.(Ala111Gly) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70238243C>G J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) SMN1_000013 - ? ? SMA J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - 1 Y Yang
./. 4 c.346A>T r.(?) p.(Ile116Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70238257A>T Cuscó I1, Barceló MJ, del Río E, Baiget M, Tizzano EF.(2004) SMN1_000015 - ? ? SMA Cuscó I1, Barceló MJ, del Río E, Baiget M, Tizzano EF.(2004) - - 1 Y Yang
./. 4 c.399_402delAGAG r.(?) p.(Glu134Serfs*14) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.70238310_70238313delAGAG Bussaglia E1, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al.(1995) SMN1_000010 - ? ? SMA Bussaglia E1, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al.(1995) - - 1 Y Yang
./. 4 c.399_402delAGAG r.(?) p.(Glu134Serfs*14) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.70238310_70238313delAGAG Cuscó I1, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.(2003) SMN1_000010 - ? ? SMA Cuscó I1, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.(2003) - - 1 Y Yang
./. 4 c.400G>A r.(?) p.(Glu134Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.70238311G>A Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) SMN1_000021 - ? ? SMA Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - 1 Y Yang
./. 4 c.400G>A r.(?) p.(Glu134Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.70238311G>A DU J1, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F.(2011) SMN1_000021 - ? ? SMA DU J1, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F.(2011) - - 1 Y Yang
./. 4 c.406C>G r.(?) p.(Gln136Glu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70238317C>G Cuscó I1, Barceló MJ, del Río E, Baiget M, Tizzano EF.(2004) SMN1_000016 - ? ? SMA Cuscó I1, Barceló MJ, del Río E, Baiget M, Tizzano EF.(2004) - - 1 Y Yang
./. 4 c.425_429del5 r.(?) p.(Leu142Profs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.70238336_70238340del5 Sossi V1, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.(2001) SMN1_000008 - ? ? SMA Sossi V1, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.(2001) - - 1 Y Yang
./. 4 c.429_435del7 r.(?) p.(Pro144Valfs*3) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.70238340_70238346del7 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) SMN1_000027 - ? ? SMA J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - 1 Y Yang
./. 4 c.431delC r.(?) p.(Pro144Glnfs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.70238342delC J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) SMN1_000028 - ? ? SMA J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - 1 Y Yang
./. 5 c.562G>T r.(?) p.(Ala188Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70238632G>T Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) SMN1_000031 - ? ? SMA Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - 1 Y Yang
./. 6 c.662C>T r.(?) p.(Pro221Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.70240519C>T Kirwin SM1, Vinette KM1, Gonzalez IL1, Abdulwahed HA2, Al-Sannaa N2, Funanage VL1.(2013) SMN1_000026 - ? ? SMA Kirwin SM1, Vinette KM1, Gonzalez IL1, Abdulwahed HA2, Al-Sannaa N2, Funanage VL1.(2013) - - 1 Y Yang
./. 6 c.683T>A r.(?) p.(Leu228*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.70240540T>A Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) SMN1_000019 - ? ? SMA Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - 1 Y Yang
./. 6 c.683T>A r.(?) p.(Leu228*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.70240540T>A Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) SMN1_000019 - ? ? SMA Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - 1 Y Yang
./. 6 c.683T>A r.(?) p.(Leu228*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation Unknown g.70240540T>A Liu WL1, Li F, He ZX, Ai R, Ma HW.(2013) SMN1_000019 - ? ? SMA Liu WL1, Li F, He ZX, Ai R, Ma HW.(2013) China - 1 Y Yang
./. 6 c.683T>A r.(?) p.(Leu228*) - - Unknown g.70240540T>A Bai JL et al. (2014) SMN1_000019 - ? ? SMA Bai JL et al. (2014) Chinese - 1 XY Liu
./. 6 c.689C>T r.(?) p.(Ser230Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.70240546C>T Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) SMN1_000018 - ? ? SMA Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - 1 Y Yang
./. 6 c.689C>T r.(?) p.(Ser230Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.70240546C>T Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) SMN1_000018 - ? ? SMA Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - 1 Y Yang
./. 6 c.689C>T r.(?) p.(Ser230Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.70240546C>T J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) SMN1_000018 - ? ? SMA J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - 1 Y Yang
./. 6 c.689C>T r.(?) p.(Ser230Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.70240546C>T DU J1, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F.(2011) SMN1_000018 - ? ? SMA DU J1, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F.(2011) - - 1 Y Yang
./. 6 c.689C>T r.(?) p.(Ser230Leu) - - Unknown g.70240546C>T Rudnik-Schöneborn S et al.(2016) SMN1_000018 - ? ? SMA Rudnik-Schöneborn S et al.(2016) - - 1 XY Liu
./. 6 c.722delC r.(?) p.(Pro241Glnfs*2) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel Unknown g.70240579delC J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) SMN1_000029 - ? ? SMA J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - 1 Y Yang
./. 7 c.731C>T r.(?) p.(Pro244Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.70241900C>T J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) SMN1_000030 - ? ? SMA J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - 1 Y Yang
./. 7 c.784A>G r.(?) p.(Ser262Gly) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.70241953A>G Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) SMN1_000014 - ? ? SMA Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - 1 Y Yang
./. 7 c.785G>T r.(?) p.(Ser262Ile) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70241954G>T Hahnen E1, Sch?nling J, Rudnik-Sch?neborn S, Raschke H, Zerres K, Wirth B.(1997) SMN1_000003 - ? ? SMA Hahnen E1, Sch?nling J, Rudnik-Sch?neborn S, Raschke H, Zerres K, Wirth B.(1997) - - 1 Y Yang
./. 7 c.801_811dup r.(?) p.(Tyr272Thrfs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel Unknown g.70241970_70241980dup Parsons DW1, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW.(1996) SMN1_000001 - ? ? SMA Parsons DW1, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW.(1996) - - 1 Y Yang
./. 7 c.815A>G r.(?) p.(Tyr272Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.70241984A>G Lefebvre S1, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al.(1995) SMN1_000004 - ? ? SMA Lefebvre S1, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al.(1995) - - 1 Y Yang
./. 7 c.815A>G r.(?) p.(Tyr272Cys) - - Unknown g.70241984A>G Giannopoulou EZ et al. (2015) SMN1_000004 - ? ? SMA Giannopoulou EZ et al. (2015) - - 1 XY Liu
./. 7 c.819_820insT r.(?) p.(Thr274Tyrfs*32) - - Unknown g.70241988_70241989insT Takarada T et al. (2017) SMN1_000038 - ? ? SMA Takarada T et al. (2017) - - 1 XY Liu
./. 7 c.821C>T r.(?) p.(Thr274Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution Unknown g.70241990C>T Hahnen E1, Sch?nling J, Rudnik-Sch?neborn S, Raschke H, Zerres K, Wirth B.(1997) SMN1_000002 - ? ? SMA Hahnen E1, Sch?nling J, Rudnik-Sch?neborn S, Raschke H, Zerres K, Wirth B.(1997) - - 1 Y Yang
./. 7 c.830A>G r.(?) p.(Tyr277Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.70241999A>G Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) SMN1_000022 - ? ? SMA Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - 1 Y Yang
./. 7 c.830A>G r.(?) p.(Tyr277Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution Unknown g.70241999A>G Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) SMN1_000022 - ? ? SMA Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - 1 Y Yang
./. 7i c.834+6T>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - Unknown g.70242009T>G Lorson CL1, Hahnen E, Androphy EJ, Wirth B.(1999) SMN1_000007 - ? ? SMA Lorson CL1, Hahnen E, Androphy EJ, Wirth B.(1999) - - 1 Y Yang
./. 8 c.836G>T r.(?) p.(Gly279Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70247769G>T Talbot K1, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE.(1997) SMN1_000005 - ? ? SMA Talbot K1, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE.(1997) - - 1 Y Yang
./. 8 c.861_862insT r.(?) p.(Arg288*) VariO:0142 DNA insertion VariO:0015 protein truncation Unknown g.70247794_70247795insT Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) SMN1_000032 - ? ? SMA Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - 1 Y Yang
./. 8 c.863G>T r.(?) p.(Arg288Met) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70247796G>T Qu YJ1, Song F, Yang YL, Jin YW, Bai JL.(2011) SMN1_000017 - ? ? SMA Qu YJ1, Song F, Yang YL, Jin YW, Bai JL.(2011) - - 1 Y Yang
./. 8 c.863G>T r.(?) p.(Arg288Met) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.70247796G>T Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) SMN1_000017 - ? ? SMA Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - 1 Y Yang
./. 8 c.863G>T r.835_*3del p.Gly279Glufs*5 - - Unknown g.70247796G>T Qu YJ et al. (2016) SMN1_000017 - ? ? SMA Qu YJ et al. (2016) - - 1 XY Liu
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