CFTR c.1030_1031delinsCA ;(p.I344H)

Variant ID: 7-117180314-AT-CA

NM_000492.3(CFTR):c.1030_1031delinsCA;(p.I344H)

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:

Tuning of CFTR chloride channel function by location of positive charges within the pore.

Biophysical Journal
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-10-17

Variant appearance in text: CFTR: I344H
PubMed Link: 23083715
Variant Present in the following documents:
  • Main text
View BVdb publication page