VWF c.7343G>A ;(p.C2448Y)

Variant ID: 12-6085371-C-T

NM_000552.3(VWF):c.7343G>A;(p.C2448Y)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Th Open : Companion Journal To Thrombosis And Haemostasis
Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C
Publication Date: 2018-01

Variant appearance in text: VWF: 7343G>A; C2448Y
PubMed Link: 31249928
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0037-1618571.pdf
View BVdb publication page