N792K (p.Asn792Lys) variant of L1CAM (Neural cell adhesion molecule L1)
N792K (p.Asn792Lys) 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 X-linked hydrocephalus syndrome. The record also includes published literature and structural context.
N792K (p.Asn792Lys) variant details
- p.Asn792Lys
- rs2520984340
- ClinGen CA415120011
- ClinVar RCV002291802
- Likely pathogenic
- X-linked hydrocephalus syndrome
- Missense
- ClinVar: Likely pathogenic (X-linked hydrocephalus syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: L1 Syndrome. (PMID 20301657)