H2627Q (p.His2627Gln) variant of LAMA2 (Laminin subunit alpha-2)
H2627Q (p.His2627Gln) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of LAMA2-related muscular dystrophy; not provided; Merosin deficient congenital mus. The record also includes variant effect predictions, population frequency data, and published literature.
H2627Q (p.His2627Gln) variant details
- p.His2627Gln
- rs202247792
- ClinGen CA342967
- ClinVar RCV000031900
- ClinVar RCV001352555
- Pathogenic/Likely pathogenic
- LAMA2-related muscular dystrophy; not provided; Merosin deficient congenital mus
- Missense
- REVEL 0.44
- CADD 3.30
- PolyPhen-2 0.32
- SIFT 0.34
- ClinVar: Pathogenic/Likely pathogenic (LAMA2-related muscular dystrophy; not provided; Merosin deficien)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)