ADAM17 c.53C>T ;(p.P18L)

Variant ID: 2-9695682-G-A

NM_003183.4(ADAM17):c.53C>T;(p.P18L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Journal Of Neurology
Jafarpour, Saba S; Banerjee, Abhik A; Boyd, Natalie K NK; Vogel, Benjamin N BN; Paulsen, Kelli C KC; Ahsan, Nusrat N; Mitchell, Wendy G WG; Jeste, Shafali S SS; Santoro, Jonathan D JD
Publication Date: 2022-12

Variant appearance in text: rs144458353
PubMed Link: 35960392
Variant Present in the following documents:
  • Main text
  • 415_2022_Article_11325.pdf
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: ADAM17: P18L; rs144458353
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page