Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2872+1G>Ap.?Intron 21Splice siteDisease-causingn.a.n.a.n.a.n.a. n.a.  


Family# Affected relativesClinical featuresRemarksReference
1 3 MASA syndrome Index case MASA; HSAS 2/3 Saugier-Veber et al. (1998)
2 1 Unknown   Kanemura et al (2006)


2006Kanemura et alMolecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus J Neurosurg: Pediatrics 105403-412 17328266
1998Saugier-Veber et al.Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis Hum. Mutat. 12259-266 9744477