CFTR c.166_167delinsCT ;(p.E56L)

Variant ID: 7-117149089-GA-CT

NM_000492.3(CFTR):c.166_167delinsCT;(p.E56L)

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:

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Molecular Biology Of The Cell
Ren, Hong Yu HY; Grove, Diane E DE; De La Rosa, Oxana O; Houck, Scott A SA; Sopha, Pattarawut P; Van Goor, Fredrick F; Hoffman, Beth J BJ; Cyr, Douglas M DM
Publication Date: 2013-10

Variant appearance in text: CFTR: E56L
PubMed Link: 23924900
Variant Present in the following documents:
  • Main text
  • 3016.pdf
View BVdb publication page