Q30* (p.Gln30Ter) variant of CFTR (P13569)

Name: CFTR Q30* (p.Gln30Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-30
License: https://catvariant.com/terms-of-use

Q30* (p.Gln30Ter) in CFTR (P13569) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q30* (p.Gln30Ter) variant details

p.Gln30Ter
rs397508815
ClinGen CA327685
ClinVar RCV000577040
ClinVar RCV001826701
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)