CFTR c.1247A>G ;(p.N416S)

Variant ID: 7-117188732-A-G

NM_000492.3(CFTR):c.1247A>G;(p.N416S)

This variant was identified in 2 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: rs777850419
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.

The Journal Of Molecular Diagnostics : Jmd
El-Seedy, Ayman A; Dudognon, Tony T; Bilan, Frédéric F; Pasquet, Marie-Claude MC; Reboul, Marie-Pierre MP; Iron, Albert A; Kitzis, Alain A; Ladeveze, Véronique V
Publication Date: 2009-09

Variant appearance in text: CFTR: N416S
PubMed Link: 19710401
Variant Present in the following documents:
  • Main text
View BVdb publication page