Reference details

Coucke et al.1994Hum. Mol. Genet.671-6733Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family 8069317

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 4c.400+5G>Cp.Phe108CysfsX92RNA splicing defectDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 Unknown c.400+5G>C p.Phe108CysfsX92Intron 4 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia