Variant #0000006206 (NC_000021.8:g.33032095G>A, SOD1(NM_000454.4):c.13G>A)

Individual ID 00006220
Chromosome 21
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33032095G>A
Reference Hatice Aksoy, Geoffrey Dean, Marta Elian, et al.
DB-ID SOD1_000081 See all 5 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
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.13G>A r.(13g>a) p.(Ala5Thr) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006242 ? ? SOD1 1 XY Liu