VWF c.1901C>T ;(p.A634V)

Variant ID: 12-6166067-G-A

NM_000552.3(VWF):c.1901C>T;(p.A634V)

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 biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Bmc Medical Genomics
Suárez-González, Julia J; Seidel, Verónica V; Andrés-Zayas, Cristina C; Izquierdo, Elvira E; Buño, Ismael I
Publication Date: 2021-03-26

Variant appearance in text: VWF: 1901C>T; Ala634Val; rs761282513
PubMed Link: 33771153
Variant Present in the following documents:
  • 12920_2021_943_MOESM2_ESM.xls, sheet 1
View BVdb publication page