Variant #0000243644 (NC_000009.11:g.35064266A>C, VCP(NM_007126.3):c.593T>G)

Individual ID 00149297
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35064266A>C
DNA change (hg38) g.35064269A>C
Published as -
ISCN -
DB-ID VCP_000019
Variant remarks Point mutation in coding region predicting an amino acid substitution
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marc Cruts
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
VCP NM_007126.3 +/+ 6 c.593T>G r.(?) p.(Leu198Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000150153 DNA ? - - VCP 1 Marc Cruts