VWF c.3050_3108del ;(p.D1017Gfs*12)

Variant ID: 12-6135072-CTTTTCTGGTGTCAGCACACTGCGAGCTCACTTTCCAGGAGTTCCCAAAGTCCACAGGGT-C

NM_000552.3(VWF):c.3050_3108del;(p.D1017Gfs*12)

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:

The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked.

Haematologica
Hampshire, Daniel J DJ; Goodeve, Anne C AC
Publication Date: 2011-06

Variant appearance in text: VWF: Glu990_Lys1036del
PubMed Link: 21632843
Variant Present in the following documents:
  • Main text
View BVdb publication page