CFTR c.1364C>T ;(p.A455V)

Variant ID: 7-117188849-C-T

NM_000492.3(CFTR):c.1364C>T;(p.A455V)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1364C>T; A455V
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs74551128
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Publication Date: 2021-01-31

Variant appearance in text: CFTR: A455V
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CFTR: A455V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European Journal Of Human Genetics : Ejhg
Thauvin-Robinet, Christel C; Thevenon, Julien J; Nambot, Sophie S; Delanne, Julian J; Kuentz, Paul P; Bruel, Ange-Line AL; Chassagne, Aline A; Cretin, Elodie E; Pelissier, Aurore A; Peyron, Chritine C; Gautier, Elodie E; Lehalle, Daphné D; Jean-Marçais, Nolwenn N; Callier, Patrick P; Mosca-Boidron, Anne-Laure AL; Vitobello, Antonio A; Sorlin, Arthur A; Tran Mau-Them, Frédéric F; Philippe, Christophe C; Vabres, Pierre P; Demougeot, Laurent L; Poé, Charlotte C; Jouan, Thibaud T; Chevarin, Martin M; Lefebvre, Mathilde M; Bardou, Marc M; Tisserant, Emilie E; Luu, Maxime M; Binquet, Christine C; Deleuze, Jean-François JF; Verstuyft, Céline C; Duffourd, Yannis Y; Faivre, Laurence L
Publication Date: 2019-08

Variant appearance in text: rs74551128
PubMed Link: 31019283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs74551128
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: rs74551128
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
Publication Date: 2013-10

Variant appearance in text: rs74551128
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-12.xlsx, sheet 2
View BVdb publication page