Variant #0000005373 (NC_000021.8:g.33040861G>T, SOD1(NM_000454.4):c.435G>T)

Individual ID 00005393
Chromosome 21
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33040861G>T
Reference Tripolszki K et al. (2017)
DB-ID SOD1_000005 See all 6 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 ./. 5 c.435G>T r.(?) p.(Leu145Phe) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005397 ? ? SOD1 1 XY Liu