VWF c.3178_3179delinsGC ;(p.C1060A)

Variant ID: 12-6134789-CA-GC

NM_000552.3(VWF):c.3178_3179delinsGC;(p.C1060A)

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:

Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.

Blood Advances
Rawley, Orla O; Swystun, Laura L LL; Brown, Christine C; Nesbitt, Kate K; Rand, Margaret M; Hossain, Taneya T; Klaassen, Robert R; James, Paula D PD; Carcao, Manuel D MD; Lillicrap, David D
Publication Date: 2022-05-10

Variant appearance in text: VWF: Cys1060Ala
PubMed Link: 35020809
Variant Present in the following documents:
  • Main text
  • advancesADV2021005928.pdf
View BVdb publication page