CFTR c.1993A>T ;(p.T665S)

Variant ID: 7-117232214-A-T

NM_000492.3(CFTR):c.1993A>T;(p.T665S)

This variant was identified in 6 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo.

G3 (Bethesda, Md.)
Blackwell, Danielle L DL; Fraser, Sherri D SD; Caluseriu, Oana O; Vivori, Claudia C; Tyndall, Amanda V AV; Lamont, Ryan E RE; Parboosingh, Jillian S JS; Innes, A Micheil AM; Bernier, François P FP; Childs, Sarah J SJ
Publication Date: 2022-05-06

Variant appearance in text: CFTR: 1993A>T; Thr665Ser
PubMed Link: 35325113
Variant Present in the following documents:
  • jkac067_supplementary_material.pdf
View BVdb publication page


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


CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

Frontiers In Genetics
El-Seedy, Ayman S AS; Shafiek, Hanaa H; Kitzis, Alain A; Ladevèze, Véronique V
Publication Date: 2017

Variant appearance in text: CFTR: 1993A>T
PubMed Link: 28408918
Variant Present in the following documents:
  • Main text
  • fgene-08-00037.pdf
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