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CFTR c.3484_3486delinsTGT ;(p.R1162C)
Variant ID: 7-117267591-CGA-TGT
NM_000492.3(
CFTR
):c.3484_3486delinsTGT;(p.R1162C)
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:
Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.
The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19
Variant appearance in text: CFTR: R1162C
PubMed Link:
25944907
Variant Present in the following documents:
Main text
View BVdb publication page