Variant #0000005345 (NC_000021.8:g.33032119G>C, SOD1(NM_000454.4):c.37G>C)

Individual ID 00005364
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33032119G>C
Reference Kim MJ et al. (2016)
DB-ID SOD1_000077 See all 4 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 ./. 1 c.37G>C r.(?) p.(Gly13Arg) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005367 ? ? SOD1 1 XY Liu