Variant #0000006171 (NC_000021.8:g.33036145C>G, SOD1(NM_000454.4):c.115C>G)

Individual ID 00006184
Chromosome 21
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33036145C>G
Reference W Robberecht, P Sapp, M K Viaene, D Rosen, D McKenna-Yasek, J Haines, R Horvitz, P Theys, R Brown Jr
DB-ID SOD1_000015 See all 7 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
SOD1 NM_000454.4 +/. 2 c.115C>G r.(115c>g) p.(Leu39Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006206 ? ? SOD1 1 XY Liu