Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.466C>Gp.Ser156XExon 5NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 2  


Family# Affected relativesClinical featuresRemarksReference
1 2 (Dys)agenesis corpus callosum, Hydrocephalus, Mental retardation Index case died at the age of 12 yrs. Patient 2 died shortly after birth. Graf et al. (2000)


2000Graf et al.Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus Ann. Neurol. 47113-117 10632110