D202G (p.Asp202Gly) variant of L1CAM (Neural cell adhesion molecule L1)
D202G (p.Asp202Gly) in L1CAM (Neural cell adhesion molecule L1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked hydrocephalus syndrome. The record also includes published literature and structural context.
D202G (p.Asp202Gly) variant details
- p.Asp202Gly
- rs2521024037
- ClinVar RCV004594862
- Pathogenic
- X-linked hydrocephalus syndrome
- Missense
- ClinVar: Pathogenic (X-linked hydrocephalus syndrome)
- EBI: Pathogenic (in MASA)
- UniProt: Pathogenic (in MASA)
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)