CFTR c.3657C>G ;(p.Y1219*)

Variant ID: 7-117267764-C-G

NM_000492.3(CFTR):c.3657C>G;(p.Y1219*)

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:

Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.

International Journal Of Molecular Sciences
Hillenaar, Tamara T; Beekman, Jeffrey J; van der Sluijs, Peter P; Braakman, Ineke I
Publication Date: 2022-12-02

Variant appearance in text: CFTR: Y1219X
PubMed Link: 36499495
Variant Present in the following documents:
  • Main text
  • ijms-23-15170.pdf
View BVdb publication page


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: Tyr1219X
PubMed Link: 30842938
Variant Present in the following documents:
  • Main text
  • fped-07-00036.pdf
View BVdb publication page