Variant #0000239964 (NC_000009.11:g.35067907G>C, VCP(NM_007126.3):c.283C>G)

Individual ID 00146431
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.35067907G>C
DNA change (hg38) g.35067910G>C
Published as -
ISCN -
DB-ID VCP_000004 See all 3 reported entries
Variant remarks not in >180 control chromosomes
Reference PubMed: Watts 2004, OMIM:var0004
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site RsaI-
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 +/. 3 c.283C>G r.(?) p.(Arg95Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000147286 DNA SEQ - - VCP 1 Johan den Dunnen