Variant #0000000576 (NC_000021.8:g.33039620G>A, SOD1(NM_000454.4):c.289G>A)

Individual ID 00000576
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33039620G>A
Reference Hand CK1, Mayeux-Portas V, Khoris J, Briolotti V, Clavelou P, Camu W, Rouleau GA.(2001)
DB-ID SOD1_000102
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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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 ./. 4 c.289G>A r.(?) p.(Asp97Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000576 ? ? SOD1 2 Y Yang