VWF c.229C>T ;(p.Q77*)

VWF c.229C>T ;(p.Q77*)

Variant ID: 12-6220126-G-A

NM_000552.3(VWF):c.229C>T;(p.Q77*)

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:

Nonsense-mediated mRNA decay among coagulation factor genes.

Iranian Journal Of Basic Medical Sciences

Shahbazi, Shirin S

Publication Date: 2016-04

Variant appearance in text: VWF: Q77X

PubMed Link: 27279976

Variant Present in the following documents:

IJBMS-19-344.pdf

View BVdb publication page

Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.

Haematologica

Castaman, Giancarlo G; Tosetto, Alberto A; Rodeghiero, Francesco F

Publication Date: 2010-06

Variant appearance in text: VWF: Q77X

PubMed Link: 19951969

Variant Present in the following documents:

Main text

View BVdb publication page