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CFTR c.410T>C ;(p.L137P)
Variant ID: 7-117171089-T-C
NM_000492.3(
CFTR
):c.410T>C;(p.L137P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The true panel of cystic fibrosis mutations in the Sicilian population.
Bmc Medical Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A
Publication Date: 2020-05-01
Variant appearance in text: CFTR: L137P
PubMed Link:
32357917
Variant Present in the following documents:
Main text
12881_2020_Article_958.pdf
View BVdb publication page
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: L137P
PubMed Link:
25192979
Variant Present in the following documents:
Main text
View BVdb publication page