VWF c.2625_2683del ;(p.Y875*)

Variant ID: 12-6143856-TGCACCAGAACGTACTGGCACTCCCCGGGGAACAGGTATTTGAGCCCGTCGAAGGTGAGG-T

NM_000552.3(VWF):c.2625_2683del;(p.Y875*)

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:

The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.

Journal Of Thrombosis And Haemostasis : Jth
Bowman, M M; Tuttle, A A; Notley, C C; Brown, C C; Tinlin, S S; Deforest, M M; Leggo, J J; Blanchette, V S VS; Lillicrap, D D; James, P P; ,
Publication Date: 2013-03

Variant appearance in text: VWF: Val815_Gln895del
PubMed Link: 23311757
Variant Present in the following documents:
  • Main text
View BVdb publication page