VWF c.1634G>C ;(p.R545P)

Variant ID: 12-6167110-C-G

NM_000552.3(VWF):c.1634G>C;(p.R545P)

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:

Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow.

Journal Of Pediatric Hematology/Oncology
Slayton, William B WB; Patel, Milin M; Sola-Visner, Martha M; Harris, Neil N; Rivers, Angela A; Montgomery, Robert R RR; Friedman, Kenneth D KD
Publication Date: 2008-09

Variant appearance in text: VWF: R545P
PubMed Link: 18776767
Variant Present in the following documents:
  • Main text
View BVdb publication page