Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2432-19A>Cp.?Intron 18Branch pointDisease-causingn.a.n.a.n.a.n.a. n.a. Proven aberrantly spliced mRNA. Segregation of the mutation with the disease. Insertion of 19 a.a.? Deletion of 116bp?


Family# Affected relativesClinical featuresRemarksReference
1 3 Adducted thumbs, Hydrocephalus, Mental retardation, Spastic paraplegia   Rosenthal et al. (1992)


1992Rosenthal et al.Aberrant splicing of neural cell adhesion molecule L1 messenger RNA in a family with X-linked hydrocephalus Nat. Genet. 2107-112 1303258