CFH c.2280A>G ;(p.I760M)

Variant ID: 1-196697519-A-G

NM_000186.3(CFH):c.2280A>G;(p.I760M)

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:

Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.

Investigative Ophthalmology & Visual Science
Farinha, Cláudia C; Barreto, Patrícia P; Coimbra, Rita R; Iutis, Adela A; Cachulo, Maria Luz ML; Cunha-Vaz, José J; Lechanteur, Yara T E YTE; Hoyng, Carel B CB; Silva, Rufino R
Publication Date: 2022-08-02

Variant appearance in text: CFH: I760M
PubMed Link: 35925583
Variant Present in the following documents:
  • iovs-63-9-5_s002.pdf
View BVdb publication page