Variant #0000239960 (NC_000009.11:g.35065361G>A, VCP(NM_007126.3):c.463C>T)

Individual ID 00146427
Chromosome 9
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35065361G>A
DNA change (hg38) g.35065364G>A
Published as -
ISCN -
DB-ID VCP_000002 See all 15 reported entries
Variant remarks mapped by linkage, haplogroup-B; not in >180 control chromosomes
Reference PubMed: Watts 2004, OMIM:var0002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VCP NM_007126.3 +/. 5 c.463C>T r.(?) p.(Arg155Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147282 DNA DHPLC;SEQ - - VCP 1 Johan den Dunnen