L10H (p.Leu10His) variant of LAMA2 (Laminin subunit alpha-2)
L10H (p.Leu10His) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Muscular dystrophy, limb-girdle, autosomal recessive 23. The record also includes published literature.
L10H (p.Leu10His) variant details
- p.Leu10His
- rs2482366909
- ClinGen CA365828208
- ClinVar RCV003340951
- Uncertain significance
- Muscular dystrophy, limb-girdle, autosomal recessive 23
- Missense
- ClinVar: Uncertain significance (Muscular dystrophy, limb-girdle, autosomal recessive 23)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)