VWF c.6853_6856del ;(p.S2285Gfs*24)

Variant ID: 12-6094774-CCGCT-C

NM_000552.3(VWF):c.6853_6856del;(p.S2285Gfs*24)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.

Blood
Lavin, Michelle M; Aguila, Sonia S; Schneppenheim, Sonja S; Dalton, Niall N; Jones, Kenneth L KL; O'Sullivan, Jamie M JM; O'Connell, Niamh M NM; Ryan, Kevin K; White, Barry B; Byrne, Mary M; Rafferty, Marie M; Doyle, Mairead M MM; Nolan, Margaret M; Preston, Roger J S RJS; Budde, Ulrich U; James, Paula P; Di Paola, Jorge J; O'Donnell, James S JS
Publication Date: 2017-11-23

Variant appearance in text: VWF: 6853_6856delAGCG; Ser2285fs
PubMed Link: 28916584
Variant Present in the following documents:
  • Main text
View BVdb publication page