VWF c.4555_4557del ;(p.E1519del)

Variant ID: 12-6128026-ACTC-A

NM_000552.3(VWF):c.4555_4557del;(p.E1519del)

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:

De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.

Thrombosis Journal
Shen, Ming-Ching MC; Chen, Ming M; Ma, Gwo-Chin GC; Chang, Shun-Ping SP; Lin, Ching-Yeh CY; Lin, Bo-Do BD; Hsieh, Han-Ni HN
Publication Date: 2016

Variant appearance in text: VWF: Glu1519del
PubMed Link: 27766062
Variant Present in the following documents:
  • Main text
  • 12959_2016_Article_92.pdf
View BVdb publication page