CFTR c.454A>T ;(p.M152L)

Variant ID: 7-117171133-A-T

NM_000492.3(CFTR):c.454A>T;(p.M152L)

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: rs397508721
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

Frontiers In Genetics
El-Seedy, Ayman S AS; Shafiek, Hanaa H; Kitzis, Alain A; Ladevèze, Véronique V
Publication Date: 2017

Variant appearance in text: CFTR: 454A>T
PubMed Link: 28408918
Variant Present in the following documents:
  • Main text
  • fgene-08-00037.pdf
View BVdb publication page