Reference details

Claes et al.1998Hum. Mutat. S240-S241Suppl 1Hydrocephalus and spastic paraplegia result from a donor splice site mutation (287+1GtoA) in the L1CAM gene in a Venezuelan pedigree 9452098

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
n.a.Intron 21c.2872+1G>Tp.?Splice siteDisease-causing Details


Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 Unknown c.2872+1G>T p.?Intron 21 Hydrocephalus, Spastic paraplegia