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CFTR c.1994C>G ;(p.T665S)
Variant ID: 7-117232215-C-G
NM_000492.3(
CFTR
):c.1994C>G;(p.T665S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetics and genomic medicine in Tunisia.
Molecular Genetics & Genomic Medicine
Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H
Publication Date: 2018-03
Variant appearance in text: CFTR: Thr665Ser
PubMed Link:
29663716
Variant Present in the following documents:
Main text
MGG3-6-134.pdf
View BVdb publication page
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: CFTR: T665S
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: CFTR: T665S
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
The cystic fibrosis gene: a molecular genetic perspective.
Cold Spring Harbor Perspectives In Medicine
Tsui, Lap-Chee LC; Dorfman, Ruslan R
Publication Date: 2013-02-01
Variant appearance in text: CFTR: T665S
PubMed Link:
23378595
Variant Present in the following documents:
Main text
View BVdb publication page