Q20* (p.Gln20Ter) variant of COL6A1 (Collagen alpha-1(VI) chain)

Name: COL6A1 Q20* (p.Gln20Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

Q20* (p.Gln20Ter) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q20* (p.Gln20Ter) variant details

p.Gln20Ter
rs1603589167
ClinGen CA410513938
ClinVar RCV000804162
Ensembl rs1603589167
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)