CFTR c.3189G>A ;(p.W1063*)

Variant ID: 7-117251684-G-A

NM_000492.3(CFTR):c.3189G>A;(p.W1063*)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Frontiers In Pharmacology
Tümmler, Burkhard B
Publication Date: 2023

Variant appearance in text: CFTR: Trp1063Ter
PubMed Link: 37025483
Variant Present in the following documents:
  • Main text
  • fphar-14-1158207.pdf
View BVdb publication page


Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Journal Of Medical Case Reports
Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA
Publication Date: 2014-10-10

Variant appearance in text: CFTR: W1063X
PubMed Link: 25304080
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-339.pdf
View BVdb publication page