Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1267C>Tp.Gln423XExon 10NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 4  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus 0 yr Finckh et al. (2000)
2 3 Hydrocephalus Index case died one day after birth. Vos et al. (2010)

References

YearAuthorTitleJournalVolumePagesWeblink
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
2010Vos et al.Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis J.Med.Genet 47(3)169-175 19846429