VWF c.4821C>A ;(p.V1607=)

Variant ID: 12-6127763-G-T

NM_000552.3(VWF):c.4821C>A;(p.V1607=)

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:

Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10

Variant appearance in text: VWF: V1607V
PubMed Link: 22431572
Variant Present in the following documents:
  • Main text
View BVdb publication page