VWF c.4471A>G ;(p.K1491E)

Variant ID: 12-6128113-T-C

NM_000552.3(VWF):c.4471A>G;(p.K1491E)

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:

Reevaluation of von Willebrand disease diagnosis in a Croatian paediatric cohort combining bleeding scores, phenotypic laboratory assays and next generation sequencing: a pilot study.

Biochemia Medica
Lapić, Ivana I; Radić Antolic, Margareta M; Dejanović Bekić, Sara S; Coen-Herak, Désirée D; Bilić, Ernest E; Rogić, Dunja D; Zadro, Renata R
Publication Date: 2022-02-15

Variant appearance in text: VWF: 4471A>G; Lys1491Glu
PubMed Link: 35210927
Variant Present in the following documents:
  • Main text
  • bm-32-1-010707.pdf
View BVdb publication page