Reference details

Takechi et al.1996Hum. Genet.353-35697A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus 8786080

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Ig 3Exon 8c.841_845del5p.Gly281HisfsX25Deletion; frameshiftDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 3 c.841_845del5 p.Gly281HisfsX25Exon 8 Hydrocephalus Index case >24yrs, younger brother still alive, uncle died in early infancy