CFI c.1548T>C ;(p.G516=)

Variant ID: 4-110662253-A-G

NM_000204.3(CFI):c.1548T>C;(p.G516=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.

Human Mutation
Khan, Adnan H AH; Sutton, Janice J; Cree, Angela J AJ; Khandhadia, Samir S; De Salvo, Gabriella G; Tobin, John J; Prakash, Priya P; Arora, Rashi R; Amoaku, Winfried W; Charbel Issa, Peter P; MacLaren, Robert E RE; Bishop, Paul N PN; Peto, Tunde T; Mohamed, Quresh Q; Steel, David H DH; Sivaprasad, Sobha S; Bailey, Clare C; Menon, Geeta G; Kavanagh, David D; Lotery, Andrew J AJ
Publication Date: 2021-09

Variant appearance in text: CFI: 1548T>C; Gly516=
PubMed Link: 34153144
Variant Present in the following documents:
  • Main text
  • HUMU-42-1139.pdf
View BVdb publication page



Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.

Human Molecular Genetics
Kavanagh, David D; Yu, Yi Y; Schramm, Elizabeth C EC; Triebwasser, Michael M; Wagner, Erin K EK; Raychaudhuri, Soumya S; Daly, Mark J MJ; Atkinson, John P JP; Seddon, Johanna M JM
Publication Date: 2015-07-01

Variant appearance in text: rs145296508
PubMed Link: 25788521
Variant Present in the following documents:
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs145296508
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-1.pdf
View BVdb publication page