Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1576_1578del3p.Ser526delExon 13DeletionLikely disease-causingSurface siten.a.n.a.Moderately Ig 6 Mutation cosegregates with the disease


Family# Affected relativesClinical featuresRemarksReference
1 4 Hydrocephalus, ? Mutation cosegregates with disease Gu et al. (1997)


1997Gu et al.Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait Am. J. Med. Genet. 71336-340 9268105