CFTR c.4200T>A ;(p.C1400*)

Variant ID: 7-117305576-T-A

NM_000492.3(CFTR):c.4200T>A;(p.C1400*)

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:

New Therapeutic Approaches to Modulate and Correct Cystic Fibrosis Transmembrane Conductance Regulator.

Pediatric Clinics Of North America
Ong, Thida T; Ramsey, Bonnie W BW
Publication Date: 2016-08

Variant appearance in text: CFTR: Cys1400X
PubMed Link: 27469186
Variant Present in the following documents:
  • Main text
View BVdb publication page