VWF c.1588A>C ;(p.N530H)

Variant ID: 12-6167156-T-G

NM_000552.3(VWF):c.1588A>C;(p.N530H)

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:

High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods.

Haematologica
Corrales, Irene I; Catarino, Susana S; Ayats, Júlia J; Arteta, David D; Altisent, Carmen C; Parra, Rafael R; Vidal, Francisco F
Publication Date: 2012-07

Variant appearance in text: VWF: 1588A>C; N530H
PubMed Link: 22315491
Variant Present in the following documents:
  • Main text
View BVdb publication page