Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.197+5G>Cp.?Intron 3RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. n.a.  


Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus Oldest mutation carrier: 5 yrs Finckh et al. (2000)
2     Gal J.


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
 Gal J. Personal communication