VWF c.1346_1372del ;(p.P449_K457del)

Variant ID: 12-6173471-AGTTTCACAAGGCTGTTGTGCAGGCCAG-A

NM_000552.3(VWF):c.1346_1372del;(p.P449_K457del)

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:

von Willebrand disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
James, Paula D PD; Goodeve, Anne C AC
Publication Date: 2011-05

Variant appearance in text: VWF: 1345_1371del
PubMed Link: 21289515
Variant Present in the following documents:
  • Main text
View BVdb publication page