Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3716G>Ap.Gly1239GluExon 28MissenseNon disease-causingn.a.Not toleratedBenignModerately Cytopl. Also found in healthy (male) family member. Found together with a disease-causing mutation p.Cys497Tyr


Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus Died shortly after birth. Finckh et al. (2000)


2000Finckh et al.Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease Am. J. Med. Genet. 9240-46 10797421