VWF c.4368C>G ;(p.Y1456*)

Variant ID: 12-6128216-G-C

NM_000552.3(VWF):c.4368C>G;(p.Y1456*)

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:

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Thrombosis And Haemostasis
Hampshire, Daniel J DJ; Abuzenadah, Adel M AM; Cartwright, Ashley A; Al-Shammari, Nawal S NS; Coyle, Rachael E RE; Eckert, Michaela M; Al-Buhairan, Ahlam M AM; Messenger, Sarah L SL; Budde, Ulrich U; Gürsel, Türkiz T; Ingerslev, Jørgen J; Peake, Ian R IR; Goodeve, Anne C AC
Publication Date: 2013-08

Variant appearance in text: VWF: 4368C>G; Y1456*
PubMed Link: 23702511
Variant Present in the following documents:
  • Main text
View BVdb publication page