VWF c.5001G>C ;(p.Q1667H)

Variant ID: 12-6127583-C-G

NM_000552.3(VWF):c.5001G>C;(p.Q1667H)

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 heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Plos One
Kasatkar, Priyanka P; Shetty, Shrimati S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: VWF: 5001G>C; Q1667H
PubMed Link: 24675615
Variant Present in the following documents:
  • Main text
  • pone.0092575.pdf
View BVdb publication page