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.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 5 c.435G>T r.(?) p.(Leu145Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33040861G>T 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_000005 - ? ? 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
./. 5 c.435G>T r.(?) p.(Leu145Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33040861G>T Ferrera L1, Caponnetto C, Marini V, Rizzi D, Bordo D, Penco S, Amoroso A, Origone P, Garrè C.(2003) SOD1_000005 - ? ? ALS Ferrera L1, Caponnetto C, Marini V, Rizzi D, Bordo D, Penco S, Amoroso A, Origone P, Garrè C.(2003) Italian - 1 Y Yang
./. 5 c.435G>T r.(?) p.(Leu145Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33040861G>T Masè G1, Ros S, Gemma A, Bonfigli L, Carraro N, Cazzato G, Rolfo M, Zanconati F, Sepcic J, Jurjevic A, Pirulli D, Boniotto M, Zezlina S, Crovella S, Amoroso A.(2001) SOD1_000005 - ? ? ALS Masè G1, Ros S, Gemma A, Bonfigli L, Carraro N, Cazzato G, Rolfo M, Zanconati F, Sepcic J, Jurjevic A, Pirulli D, Boniotto M, Zezlina S, Crovella S, Amoroso A.(2001) Istro-Rumanian - 1 Y Yang
./. 5 c.435G>T r.(?) p.(Leu145Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution Unknown g.33040861G>T 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_000005 - ? ? 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
./. 5 c.435G>T r.(?) p.(Leu145Phe) - - Unknown g.33040861G>T Tripolszki K et al. (2017) SOD1_000005 - ? ? ALS Tripolszki K et al. (2017) - - 1 XY Liu
?/. 5 c.435G>T r.(435g>u) p.(Leu145Phe) - - Unknown g.33040861G>T P Corcia, P Petiot, Z Stevic, P Vourc'h, R Morales, P H Gordon, N Pageot, C Andres, W Camu SOD1_000005 - ? ? ALS P Corcia, P Petiot, Z Stevic, P Vourc'h, R Morales, P H Gordon, N Pageot, C Andres, W Camu - - 1 XY Liu
Legend   How to query