CFTR c.179A>C ;(p.E60A)

Variant ID: 7-117149102-A-C

NM_000492.3(CFTR):c.179A>C;(p.E60A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cormet-Boyaka, Estelle E; Jablonsky, Michael M; Naren, Anjaparavanda P AP; Jackson, Patricia L PL; Muccio, Donald D DD; Kirk, Kevin L KL
Publication Date: 2004-05-25

Variant appearance in text: CFTR: E60A
PubMed Link: 15141088
Variant Present in the following documents:
  • Main text
View BVdb publication page