CFTR c.1209G>A ;(p.E403=)

Variant ID: 7-117182162-G-A

NM_000492.3(CFTR):c.1209G>A;(p.E403=)

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: 1209G>A
PubMed Link: 37025483
Variant Present in the following documents:
  • Main text
  • fphar-14-1158207.pdf
View BVdb publication page


Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Scott, Alexandra A; Petrykowska, Hanna M HM; Hefferon, Timothy T; Gotea, Valer V; Elnitski, Laura L
Publication Date: 2012-12

Variant appearance in text: CFTR: 1209G>A
PubMed Link: 22591852
Variant Present in the following documents:
  • Main text
View BVdb publication page