Variant #0000005235 (NC_000009.11:g.34635598T>C, SIGMAR1(NM_005866.3):c.*31A>G)

Individual ID 00005246
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.34635598T>C
Reference Ullah MI et al. (2015)
DB-ID SIGMAR1_000002
Frequency -
Average frequency (gnomAD v.2.1.1) 0.99569 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     
SIGMAR1 NM_005866.3 +/. 3'UTR c.*31A>G r.(?) p.(?) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005249 ? ? SIGMAR1 1 XY Liu