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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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