VWF c.116G>C ;(p.G39A)

Variant ID: 12-6230444-C-G

NM_000552.3(VWF):c.116G>C;(p.G39A)

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:

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)
Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z
Publication Date: 2021-03-05

Variant appearance in text: VWF: 116G>C
PubMed Link: 33807613
Variant Present in the following documents:
  • Main text
  • life-11-00202.pdf
  • life-11-00202-s001.pdf
View BVdb publication page