Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3124C>Tp.Gln1042XExon 23NonsenseDisease-causingn.a.n.a.n.a.n.a. Fn 5  


Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia (M) grandmother had a (male) stillbirth infant with HC 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