CFTR c.2149A>G ;(p.T717A)

Variant ID: 7-117232370-A-G

NM_000492.3(CFTR):c.2149A>G;(p.T717A)

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:

The PEST sequence does not contribute to the stability of the cystic fibrosis transmembrane conductance regulator.

Bmc Biochemistry
Chen, Eva Y EY; Clarke, David M DM
Publication Date: 2002-10-02

Variant appearance in text: CFTR: T717A
PubMed Link: 12361483
Variant Present in the following documents:
  • Main text
  • 1471-2091-3-29.pdf
View BVdb publication page