Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3452_3455del4p.Tyr1151XExon 25Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Cytopl.  


Family# Affected relativesClinical featuresRemarksReference
1 Unknown Unknown   Fransen et al. (1997)
2 >2 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus Age of oldest mutation carrier in the family: 0 yr 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
1997Fransen et al.L1-associated diseases: clinical geneticists divide, molecular geneticists unite Hum. Mol. Genet. 61625-1632 9300653