CFTR c.250T>C ;(p.Y84H)

Variant ID: 7-117149173-T-C

NM_000492.3(CFTR):c.250T>C;(p.Y84H)

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: rs745756794
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics
Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A
Publication Date: 2020-05-01

Variant appearance in text: CFTR: Y84H
PubMed Link: 32357917
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_958.pdf
View BVdb publication page