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CFTR c.2630C>G ;(p.S877C)
Variant ID: 7-117242890-C-G
NM_000492.3(
CFTR
):c.2630C>G;(p.S877C)
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:
Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.
The Journal Of General Physiology
Wang, Wuyang W; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2011-08
Variant appearance in text: CFTR: S877C
PubMed Link:
21746847
Variant Present in the following documents:
Main text
JGP_201110605.pdf
View BVdb publication page