CFTR c.1366G>T ;(p.V456F)

Variant ID: 7-117188851-G-T

NM_000492.3(CFTR):c.1366G>T;(p.V456F)

This variant was identified in 7 publications

View GRCh38 version.



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

Publications:

Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: V456F
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page


Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.

Balkan Journal Of Medical Genetics : Bjmg
Fustik, S S; Anastasovska, V V; Plaseska-Karanfilska, D D; Stamatova, A A; Spirevska, L L; Pesevska, M M; Terzikj, M M; Vujovic, M M
Publication Date: 2021-06

Variant appearance in text: CFTR: V456F
PubMed Link: 34447658
Variant Present in the following documents:
  • Main text
  • bjmg-24-041.pdf
View BVdb publication page


Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Balkan Journal Of Medical Genetics : Bjmg
Terzic, M M; Jakimovska, M M; Fustik, S S; Jakovska, T T; Sukarova-Stefanovska, E E; Plaseska-Karanfilska, D D
Publication Date: 2019-06

Variant appearance in text: CFTR: V456F
PubMed Link: 31523618
Variant Present in the following documents:
  • Main text
  • bjmg-22-035.pdf
View BVdb publication page


Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine
Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M
Publication Date: 2019-08

Variant appearance in text: CFTR: 1366G>T; V456F
PubMed Link: 31245908
Variant Present in the following documents:
  • Main text
  • MGG3-7-e696.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: V456F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page


TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy.

Molecular And Cellular Biology
Singh, Natalia N NN; Seo, Joonbae J; Ottesen, Eric W EW; Shishimorova, Maria M; Bhattacharya, Dhruva D; Singh, Ravindra N RN
Publication Date: 2011-03

Variant appearance in text: CFTR: V456F
PubMed Link: 21189287
Variant Present in the following documents:
  • Main text
View BVdb publication page


Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron.

Molecular And Cellular Biology
Singh, Nirmal K NK; Singh, Natalia N NN; Androphy, Elliot J EJ; Singh, Ravindra N RN
Publication Date: 2006-02

Variant appearance in text: CFTR: V456F
PubMed Link: 16449646
Variant Present in the following documents:
  • Main text
View BVdb publication page