CFTR c.985A>G ;(p.K329E)

Variant ID: 7-117180269-A-G

NM_000492.3(CFTR):c.985A>G;(p.K329E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height.

Journal Of Medical Genetics
North, Teri-Louise TL; Ben-Shlomo, Yoav Y; Cooper, Cyrus C; Deary, Ian J IJ; Gallacher, John J; Kivimaki, Mika M; Kumari, Meena M; Martin, Richard M RM; Pattie, Alison A; Sayer, Avan Aihie AA; Starr, John M JM; Wong, Andrew A; Kuh, Diana D; Rodriguez, Santiago S; Day, Ian N M IN
Publication Date: 2016-04

Variant appearance in text: CFTR: 985A>G
PubMed Link: 26831755
Variant Present in the following documents:
  • Main text
  • jmedgenet-2015-103342.pdf
View BVdb publication page