VWF c.2574_2584del ;(p.T859Vfs*2)

Variant ID: 12-6143954-ACATGGTCTGTG-A

NM_000552.3(VWF):c.2574_2584del;(p.T859Vfs*2)

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:

An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.

Haematologica
Boisseau, Pierre P; Giraud, Mathilde M; Ternisien, Catherine C; Veyradier, Agnès A; Fressinaud, Edith E; Lefrancois, Armelle A; Bezieau, Stéphane S; Fouassier, Marc M
Publication Date: 2011-10

Variant appearance in text: VWF: 2574_2584del; Thr859ValfsX2
PubMed Link: 21750090
Variant Present in the following documents:
  • Main text
View BVdb publication page