CFTR c.228T>G ;(p.C76W)

Variant ID: 7-117149151-T-G

NM_000492.3(CFTR):c.228T>G;(p.C76W)

This variant was identified in 3 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: rs777536750
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 228T>G; Cys76Trp; rs777536750
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis.

Gastroenterology
Schneider, Alexander A; Larusch, Jessica J; Sun, Xiumei X; Aloe, Amy A; Lamb, Janette J; Hawes, Robert R; Cotton, Peter P; Brand, Randall E RE; Anderson, Michelle A MA; Money, Mary E ME; Banks, Peter A PA; Lewis, Michele D MD; Baillie, John J; Sherman, Stuart S; Disario, James J; Burton, Frank R FR; Gardner, Timothy B TB; Amann, Stephen T ST; Gelrud, Andres A; George, Ryan R; Rockacy, Matthew J MJ; Kassabian, Sirvart S; Martinson, Jeremy J; Slivka, Adam A; Yadav, Dhiraj D; Oruc, Nevin N; Barmada, M Michael MM; Frizzell, Raymond R; Whitcomb, David C DC
Publication Date: 2011-01

Variant appearance in text: CFTR: C76W
PubMed Link: 20977904
Variant Present in the following documents:
  • Main text
View BVdb publication page