VWF c.5202G>T ;(p.Q1734H)

Variant ID: 12-6125791-C-A

NM_000552.3(VWF):c.5202G>T;(p.Q1734H)

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:

Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.

Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Lederman, C A CA; Wren, J S JS; Christopherson, P A PA; Friedman, K D KD; Hoffmann, R G RG; Montgomery, R R RR
Publication Date: 2010-06

Variant appearance in text: VWF: Q1734H
PubMed Link: 20345715
Variant Present in the following documents:
  • Main text
View BVdb publication page