CR1L c.80T>G ;(p.L27R)

Variant ID: 1-207818658-T-G

NM_175710.1(CR1L):c.80T>G;(p.L27R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.

Clinical Rheumatology
Fritz, Daan D; Ferwerda, Bart B; Brouwer, Matthijs C MC; van de Beek, Diederik D
Publication Date: 2021-09

Variant appearance in text: rs115047031
PubMed Link: 33903979
Variant Present in the following documents:
  • Main text
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: CR1L: L27R; rs115047031
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
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: CR1L: L27R; rs115047031
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page