Variant #0000006317 (NC_000003.11:g.87295048C>A, CHMP2B(NM_014043.3):c.311C>A)

Individual ID 00006331
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.87295048C>A
Reference Laura E Cox, Laura Ferraiuolo, Emily F Goodall, et al.
DB-ID CHMP2B_000007
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     
CHMP2B NM_014043.3 +/. 3 c.311C>A r.(311c>a) p.(Thr104Asn) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006354 ? ? CHMP2B 1 XY Liu