CFI c.1429G>C ;(p.D477H)

Variant ID: 4-110667378-C-G

NM_000204.3(CFI):c.1429G>C;(p.D477H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Complement Factor I Variants in Complement-Mediated Renal Diseases.

Frontiers In Immunology
Zhang, Yuzhou Y; Goodfellow, Renee X RX; Ghiringhelli Borsa, Nicolo N; Dunlop, Hannah C HC; Presti, Stephen A SA; Meyer, Nicole C NC; Shao, Dingwu D; Roberts, Sarah M SM; Jones, Michael B MB; Pitcher, Gabriella R GR; Taylor, Amanda O AO; Nester, Carla M CM; Smith, Richard J H RJH
Publication Date: 2022

Variant appearance in text: CFI: 1429G>C; Asp477His
PubMed Link: 35619721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.

Frontiers In Immunology
de Jong, Sarah S; de Breuk, Anita A; Bakker, Bjorn B; Katti, Suresh S; Hoyng, Carel B CB; Nilsson, Sara C SC; Blom, Anna M AM; van den Heuvel, Lambert P LP; den Hollander, Anneke I AI; Volokhina, Elena B EB
Publication Date: 2021

Variant appearance in text: rs754972981
PubMed Link: 35069568
Variant Present in the following documents:
  • Main text
  • fimmu-12-789897.pdf
  • Table_1.xlsx, sheet 1
View BVdb publication page



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: rs754972981
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: D477H
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: D477H
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-1.pdf
View BVdb publication page