Variant #0000612098 (NC_000009.11:g.35059790T>C, VCP(NM_007126.3):c.1704A>G)

Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.35059790T>C
DNA change (hg38) g.35059793T>C
Published as VCP(NM_001354928.1):c.1569A>G (p.Q523=), VCP(NM_007126.3):c.1704A>G (p.Q568=), VCP(NM_007126.5):c.1704A>G (p.Q568=)
ISCN -
DB-ID VCP_000031 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00272 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VCP NM_007126.3 -?/. - c.1704A>G r.(?) p.(Gln568=)