Full data view for gene SOD1

Information The variants shown are described using the NM_000454.4 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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AscendingDNA change (cDNA)     

RNA change     

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Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

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./. 2 c.112G>C r.(?) p.(Gly38Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33036142G>C Cudkowicz ME1, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH.(1997) SOD1_000074 - ? ? ALS Cudkowicz ME1, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH.(1997) - - 1 Y Yang
./. 2 c.112G>C r.(?) p.(Gly38Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33036142G>C Cudkowicz ME1, McKenna-Yasek D, Sapp PE, Chin W, Geller B, Hayden DL, Schoenfeld DA, Hosler BA, Horvitz HR, Brown RH.(1997) SOD1_000074 - ? ? ALS Rosen DR1, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, et al.(1993) - - 1 Y Yang
./. 2 c.112G>C r.(?) p.(Gly38Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33036142G>C García-Redondo A1, Bustos F, Juan Y Seva B, Del Hoyo P, Jiménez S, Campos Y, Martín MA, Rubio JC, Ca?adillas F, Arenas J, Esteban J.(2002) SOD1_000074 - ? ? ALS García-Redondo A1, Bustos F, Juan Y Seva B, Del Hoyo P, Jiménez S, Campos Y, Martín MA, Rubio JC, Ca?adillas F, Arenas J, Esteban J.(2002) - - 1 Y Yang
./. 2 c.112G>C r.(?) p.(Gly38Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33036142G>C Sato T1, Nakanishi T, Yamamoto Y, Andersen PM, Ogawa Y, Fukada K, Zhou Z, Aoike F, Sugai F, Nagano S, Hirata S, Ogawa M, Nakano R, Ohi T, Kato T, Nakagawa M, Hamasaki T, Shimizu A, Sakoda S.(2005) SOD1_000074 - ? ? ALS "Sato T1, Nakanishi T, Yamamoto Y, Andersen PM, Ogawa Y, Fukada K, Zhou Z, Aoike F, Sugai F, Nagano S, Hirata S, Ogawa M, Nakano R, Ohi T, Kato T, Nakagawa M, Hamasaki T(2005) - - 1 Y Yang
./. 2 c.112G>C r.(?) p.(Gly38Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33036142G>C Andersen PM1, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH Jr.(2003) SOD1_000074 - ? ? ALS Andersen PM1, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH Jr.(2003) - - 1 Y Yang
?/. 2 c.112G>C r.(112g>c) p.(Gly38Arg) - - Unknown g.33036142G>C Josep Gamez, Marc Corbera-Bellalta, Gisela Nogales, et al. SOD1_000074 - ? ? ALS Josep Gamez, Marc Corbera-Bellalta, Gisela Nogales, et al. Catalan - 1 XY Liu
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