HR c.1908G>C ;(p.E636D)

Variant ID: 8-21981169-C-G

NM_005144.4(HR):c.1908G>C;(p.E636D)

This variant was identified in 1 publication

View GRCh38 version.




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