Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.197+17G>Ap.?Intron 3Intronic variationLikely non disease-causingn.a.n.a.n.a.n.a. n.a. 197+17G>A was found on one of 100 female control chromosomes.


Family# Affected relativesClinical featuresRemarksReference
1 ? Hydrocephalus   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