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CFTR c.2749T>G ;(p.Y917D)
Variant ID: 7-117243677-T-G
NM_000492.3(
CFTR
):c.2749T>G;(p.Y917D)
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:
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
The Journal Of Membrane Biology
Schlebach, Jonathan P JP; Sanders, Charles R CR
Publication Date: 2015-06
Variant appearance in text: CFTR: Y917D
PubMed Link:
25192979
Variant Present in the following documents:
Main text
View BVdb publication page