VWF c.1846_1848delinsGAC ;(p.S616D)

Variant ID: 12-6166120-CGA-GTC

NM_000552.3(VWF):c.1846_1848delinsGAC;(p.S616D)

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:

Mitochondrial dynamics and reactive oxygen species initiate thrombopoiesis from mature megakaryocytes.

Blood Advances
Poirault-Chassac, Sonia S; Nivet-Antoine, Valérie V; Houvert, Amandine A; Kauskot, Alexandre A; Lauret, Evelyne E; Lai-Kuen, René R; Dusanter-Fourt, Isabelle I; Baruch, Dominique D
Publication Date: 2021-03-23

Variant appearance in text: VWF: Ser616Asp
PubMed Link: 33720340
Variant Present in the following documents:
  • Main text
View BVdb publication page