CFTR c.4255_4257delinsTAA ;(p.N1419*)

Variant ID: 7-117306974-AAC-TAA

NM_000492.3(CFTR):c.4255_4257delinsTAA;(p.N1419*)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.

The Journal Of Physiology
Yeh, Jiunn-Tyng JT; Yu, Ying-Chun YC; Hwang, Tzyh-Chang TC
Publication Date: 2019-01

Variant appearance in text: CFTR: N1419X
PubMed Link: 30408177
Variant Present in the following documents:
  • Main text
View BVdb publication page