VWF c.4163A>G ;(p.Q1388R)

Variant ID: 12-6128421-T-C

NM_000552.3(VWF):c.4163A>G;(p.Q1388R)

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:

Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine
Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N
Publication Date: 2021-07-16

Variant appearance in text: VWF: 4163A>G; Gln1388Arg
PubMed Link: 34272389
Variant Present in the following documents:
  • 41525_2021_228_MOESM1_ESM.pdf
View BVdb publication page