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HR c.1908G>T ;(p.E636D)
Variant ID: 8-21981169-C-A
NM_005144.4(
HR
):c.1908G>T;(p.E636D)
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:
Impact of a Complement Factor H Gene Variant on Renal Dysfunction, Cardiovascular Events, and Response to ACE Inhibitor Therapy in Type 2 Diabetes.
Frontiers In Genetics
Valoti, Elisabetta E; Noris, Marina M; Perna, Annalisa A; Rurali, Erica E; Gherardi, Giulia G; Breno, Matteo M; Parvanova Ilieva, Aneliya A; Petrov Iliev, Ilian I; Bossi, Antonio A; Trevisan, Roberto R; Dodesini, Alessandro Roberto AR; Ferrari, Silvia S; Stucchi, Nadia N; Benigni, Ariela A; Remuzzi, Giuseppe G; Ruggenenti, Piero P
Publication Date: 2019
Variant appearance in text: HR: Glu636Asp
PubMed Link:
31428128
Variant Present in the following documents:
Main text
fgene-10-00681.pdf
View BVdb publication page