H77N (p.His77Asn) variant of LRP4 (O75096)
H77N (p.His77Asn) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome. The record also includes published literature and structural context.
H77N (p.His77Asn) variant details
- p.His77Asn
- rs2539779284
- ClinGen CA380290469
- ClinVar RCV002761240
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome
- Missense
- ClinVar: Uncertain significance (Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital mya)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)