VWF c.3757_3758delinsGC ;(p.S1253A)

Variant ID: 12-6128826-CT-GC

NM_000552.3(VWF):c.3757_3758delinsGC;(p.S1253A)

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:

Platelet GpIba binding to von Willebrand Factor under fluid shear:contributions of the D′D3-domain, A1-domain flanking peptide and O-linked glycans.

Journal Of The American Heart Association
Madabhushi, Sri R SR; Zhang, Changjie C; Kelkar, Anju A; Dayananda, Kannayakanahalli M KM; Neelamegham, Sriram S
Publication Date: 2014-10-23

Variant appearance in text: VWF: S1253A
PubMed Link: 25341886
Variant Present in the following documents:
  • Main text
  • jah3-3-e001420.pdf
View BVdb publication page