VWF c.2450A>C ;(p.H817P)

Variant ID: 12-6145650-T-G

NM_000552.3(VWF):c.2450A>C;(p.H817P)

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 of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.

Journal Of The American Heart Association
Yaoita, Nobuhiro N; Satoh, Kimio K; Satoh, Taijyu T; Shimizu, Toru T; Saito, Sakae S; Sugimura, Koichiro K; Tatebe, Shunsuke S; Yamamoto, Saori S; Aoki, Tatsuo T; Kikuchi, Nobuhiro N; Kurosawa, Ryo R; Miyata, Satoshi S; Nagasaki, Masao M; Yasuda, Jun J; Shimokawa, Hiroaki H
Publication Date: 2020-11-03

Variant appearance in text: VWF: 2450A>C
PubMed Link: 33103541
Variant Present in the following documents:
  • Main text
View BVdb publication page