Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1318C>Tp.Gln440XExon 11NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 5  


Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia (M) grandmother had stillborn infant (male) with HC. Fam HC18 in ref. 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