CFTR c.2399C>T ;(p.A800V)

Variant ID: 7-117232620-C-T

NM_000492.3(CFTR):c.2399C>T;(p.A800V)

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: rs397508373
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



A variant by any name: quantifying annotation discordance across tools and clinical databases.

Genome Medicine
Yen, Jennifer L JL; Garcia, Sarah S; Montana, Aldrin A; Harris, Jason J; Chervitz, Stephen S; Morra, Massimo M; West, John J; Chen, Richard R; Church, Deanna M DM
Publication Date: 2017-01-26

Variant appearance in text: CFTR: 2399C>T
PubMed Link: 28122645
Variant Present in the following documents:
  • 13073_2016_396_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page