CFTR c.2111C>T ;(p.P704L)

Variant ID: 7-117232332-C-T

NM_000492.3(CFTR):c.2111C>T;(p.P704L)

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: rs776162972
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Refining the continuum of CFTR-associated disorders in the era of newborn screening.

Clinical Genetics
Levy, H H; Nugent, M M; Schneck, K K; Stachiw-Hietpas, D D; Laxova, A A; Lakser, O O; Rock, M M; Dahmer, M K MK; Biller, J J; Nasr, S Z SZ; Baker, M M; McColley, S A SA; Simpson, P P; Farrell, P M PM
Publication Date: 2016-05

Variant appearance in text: CFTR: P704L
PubMed Link: 26671754
Variant Present in the following documents:
  • Main text
View BVdb publication page