C3 c.4855A>G ;(p.S1619G)

Variant ID: 19-6678030-T-C

NM_000064.2(C3):c.4855A>G;(p.S1619G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Complement in Secondary Thrombotic Microangiopathy.

Kidney International Reports
Palma, Lilian Monteiro Pereira LMP; Sridharan, Meera M; Sethi, Sanjeev S
Publication Date: 2021-01

Variant appearance in text: C3b: 4855A>G
PubMed Link: 33102952
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: rs2230210
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs2230210
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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: rs2230210
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page