CFTR c.2335C>T ;(p.Q779*)

Variant ID: 7-117232556-C-T

NM_000492.3(CFTR):c.2335C>T;(p.Q779*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics
Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H
Publication Date: 2019

Variant appearance in text: CFTR: 2335C>T; Q779X
PubMed Link: 30842938
Variant Present in the following documents:
  • Main text
  • fped-07-00036.pdf
View BVdb publication page



A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R
Publication Date: 2015-04-21

Variant appearance in text: CFTR: 2335C>T; Gln779*
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
View BVdb publication page