R146C (p.Arg146Cys) variant of LRP4 (O75096)
R146C (p.Arg146Cys) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi. The record also includes structural context.
R146C (p.Arg146Cys) variant details
- p.Arg146Cys
- NCI-TCGA Cosmic COSV6613
- Ensembl rs1565800589
- Uncertain significance
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available