HR c.1039G>C ;(p.G347R)

Variant ID: 8-21984916-C-G

NM_005144.4(HR):c.1039G>C;(p.G347R)

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:

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood
Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S
Publication Date: 2021-12-02

Variant appearance in text: HR: Gly347Arg
PubMed Link: 34189567
Variant Present in the following documents:
  • Main text
View BVdb publication page