Variant #0000006236 (NC_000021.8:g.33036170A>G, SOD1(NM_000454.4):c.140A>G)

Individual ID 00006249
Chromosome 21
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33036170A>G
Reference Trygve Holmøy, Kathrine Bjørgo, Per M Roos
DB-ID SOD1_000029 See all 9 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




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.140A>G r.(140a>g) p.(His47Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006272 ? ? SOD1 1 XY Liu