CFTR c.2778G>T ;(p.L926F)

Variant ID: 7-117243706-G-T

NM_000492.3(CFTR):c.2778G>T;(p.L926F)

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: rs767910302
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.

Iranian Biomedical Journal
Mohseni, Marzieh M; Razzaghmanesh, Mohammad M; Parsi Mehr, Elham E; Zare, Hanieh H; Beheshtian, Maryam M; Najmabadi, Hossein H
Publication Date: 2016-09

Variant appearance in text: CFTR: 2778G>T; Leu926Phe
PubMed Link: 27017198
Variant Present in the following documents:
  • IBJ-20-201.pdf
View BVdb publication page