CFI c.743G>A ;(p.G248E)

Variant ID: 4-110681708-C-T

NM_000204.3(CFI):c.743G>A;(p.G248E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Effect of rare coding variants in the CFI gene on Factor I expression levels.

Human Molecular Genetics
de Jong, Sarah S; Volokhina, Elena B EB; de Breuk, Anita A; Nilsson, Sara C SC; de Jong, Eiko K EK; van der Kar, Nicole C A J NCAJ; Bakker, Bjorn B; Hoyng, Carel B CB; van den Heuvel, Lambert P LP; Blom, Anna M AM; den Hollander, Anneke I AI
Publication Date: 2020-08-11

Variant appearance in text: CFI: Gly248Glu
PubMed Link: 32510551
Variant Present in the following documents:
  • supp_table_1_ddaa114.xlsx, sheet 1
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: CFI: G248E
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: CFI: G248E
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-1.pdf
View BVdb publication page