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CFTR c.1471_1472delinsGC ;(p.C491A)
Variant ID: 7-117199596-TG-GC
NM_000492.3(
CFTR
):c.1471_1472delinsGC;(p.C491A)
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:
Modulation of cystic fibrosis transmembrane conductance regulator (CFTR) activity and genistein binding by cytosolic pH.
The Journal Of Biological Chemistry
Melani, Raffaella R; Tomati, Valeria V; Galietta, Luis J V LJ; Zegarra-Moran, Olga O
Publication Date: 2010-12-31
Variant appearance in text: CFTR: C491A
PubMed Link:
20974851
Variant Present in the following documents:
Main text
View BVdb publication page