VWF c.605G>C ;(p.R202P)

Variant ID: 12-6204678-C-G

NM_000552.3(VWF):c.605G>C;(p.R202P)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs369737556
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page


p.P2063S: a neutral VWF variant masquerading as a mutation.

Annals Of Hematology
Hampshire, Daniel J DJ; Goodeve, Anne C AC
Publication Date: 2014-03

Variant appearance in text: VWF: 605G>C; R202P
PubMed Link: 23775583
Variant Present in the following documents:
  • Main text
View BVdb publication page