Q21* (p.Gln21Ter) variant of LAMA2 (Laminin subunit alpha-2)

Name: LAMA2 Q21* (p.Gln21Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

Q21* (p.Gln21Ter) in LAMA2 (Laminin subunit alpha-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.

Q21* (p.Gln21Ter) variant details

p.Gln21Ter
rs886061039
ClinGen CA365828264
ClinVar RCV000673285
ClinVar RCV002531335
Pathogenic
Stop Gained
CADD 33.00
EBI: Pathogenic
UniProt: Pathogenic
Population evidence available
Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)
Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)