VWF c.4372T>C ;(p.C1458R)

Variant ID: 12-6128212-A-G

NM_000552.3(VWF):c.4372T>C;(p.C1458R)

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:

Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Flood, V H VH; Gill, J C JC; Christopherson, P A PA; Wren, J S JS; Friedman, K D KD; Haberichter, S L SL; Hoffmann, R G RG; Montgomery, R R RR
Publication Date: 2012-07

Variant appearance in text: VWF: C1458R
PubMed Link: 22507643
Variant Present in the following documents:
  • Main text
View BVdb publication page