Variant #0000006495 (NC_000020.10:g.56993375C>A, VAPB(NM_004738.4):c.167C>A)

Individual ID 00006501
Chromosome 20
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.56993375C>A
Reference Yi-Min Sun, et al. (2017)
DB-ID VAPB_000012
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     
VAPB NM_004738.4 ?/. 2 c.167C>A r.(167c>a) p.(Pro56His) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006525 ? ? VAPB 1 XY Liu