D72A (p.Asp72Ala) variant of L1CAM (Neural cell adhesion molecule L1)
D72A (p.Asp72Ala) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Muscular dystrophy, limb-girdle, autosomal recessive 23. The record also includes published literature and structural context.
D72A (p.Asp72Ala) variant details
- p.Asp72Ala
- rs2521036025
- ClinGen CA415139394
- ClinVar RCV002307849
- Likely pathogenic
- Muscular dystrophy, limb-girdle, autosomal recessive 23
- Missense
- ClinVar: Likely pathogenic (Muscular dystrophy, limb-girdle, autosomal recessive 23)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: LAMA2 Muscular Dystrophy. (PMID 22675738)