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CFTR c.944T>G ;(p.F315C)
Variant ID: 7-117180228-T-G
NM_000492.3(
CFTR
):c.944T>G;(p.F315C)
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:
The Fifth Transmembrane Segment of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Its Anion Permeation Pathway.
Biochemistry
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2015-06-23
Variant appearance in text: CFTR: F315C
PubMed Link:
26024338
Variant Present in the following documents:
Main text
View BVdb publication page