E722K (p.Glu722Lys) variant of LAMA2 (Laminin subunit alpha-2)
E722K (p.Glu722Lys) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Merosin deficient congenital muscular dystrophy. The record also includes published literature.
E722K (p.Glu722Lys) variant details
- p.Glu722Lys
- rs2482165302
- ClinGen CA365608608
- ClinVar RCV002310595
- Likely pathogenic
- Merosin deficient congenital muscular dystrophy
- Missense
- ClinVar: Likely pathogenic (Merosin deficient congenital muscular dystrophy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)
- Cited in: Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders. (PMID 22420014)