VWF c.4165G>A ;(p.E1389K)

Variant ID: 12-6128419-C-T

NM_000552.3(VWF):c.4165G>A;(p.E1389K)

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:

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Journal Of The American Society Of Nephrology : Jasn
Bu, Fengxiao F; Maga, Tara T; Meyer, Nicole C NC; Wang, Kai K; Thomas, Christie P CP; Nester, Carla M CM; Smith, Richard J H RJ
Publication Date: 2014-01

Variant appearance in text: VWF: 4165G>A; Glu1389Lys
PubMed Link: 24029428
Variant Present in the following documents:
  • Main text
View BVdb publication page