Q36* (p.Gln36Ter) variant of LAMA2 (Laminin subunit alpha-2)

Name: LAMA2 Q36* (p.Gln36Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

Q36* (p.Gln36Ter) 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.

Q36* (p.Gln36Ter) variant details

p.Gln36Ter
rs1360796756
ClinGen CA365828360
ClinVar RCV000667526
ClinVar RCV003736880
Pathogenic
Stop Gained
CADD 40.00
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)