Variant #0000006172 (NC_000021.8:g.33039584T>G, SOD1(NM_000454.4):c.253T>G)

Individual ID 00006185
Chromosome 21
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33039584T>G
Reference A Ohnishi, S Miyazaki, Y Murai, S Ueno, H Sakai
DB-ID SOD1_000003 See all 3 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 ?/. 4 c.253T>G r.(253u>g) p.(Leu85Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006207 ? ? SOD1 1 XY Liu