CFTR c.496A>G ;(p.K166E)

Variant ID: 7-117174336-A-G

NM_000492.3(CFTR):c.496A>G;(p.K166E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS
Publication Date: 2008-05

Variant appearance in text: CFTR: K166E
PubMed Link: 18456578
Variant Present in the following documents:
  • Main text
View BVdb publication page



Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Journal Of Korean Medical Science
Koh, Won-Jung WJ; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Jeong-Ho JH; Lim, Seong Yong SY
Publication Date: 2006-06

Variant appearance in text: CFTR: 496A>G; K166E
PubMed Link: 16778407
Variant Present in the following documents:
  • jkms-21-563.pdf
View BVdb publication page