CFTR c.1196C>A ;(p.A399D)

Variant ID: 7-117182149-C-A

NM_000492.3(CFTR):c.1196C>A;(p.A399D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs146463120
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology
de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S
Publication Date: 2018-01

Variant appearance in text: CFTR: 1196C>A; A399D
PubMed Link: 29216686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

European Journal Of Human Genetics : Ejhg
Masvidal, Laia L; Igreja, Susana S; Ramos, Maria D MD; Alvarez, Antoni A; de Gracia, Javier J; Ramalho, Anabela A; Amaral, Margarida D MD; Larriba, Sara S; Casals, Teresa T
Publication Date: 2014-06

Variant appearance in text: CFTR: Ala399Asp
PubMed Link: 24129438
Variant Present in the following documents:
  • Main text
View BVdb publication page