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VWF c.5793G>C ;(p.Q1931H)
Variant ID: 12-6120832-C-G
NM_000552.3(
VWF
):c.5793G>C;(p.Q1931H)
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: 5793G>C; Q1931H
PubMed Link:
24675615
Variant Present in the following documents:
Main text
pone.0092575.pdf
View BVdb publication page