Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.523+12C>TnoneIntron 5Intronic variationNon disease-causingn.a.n.a.n.a.n.a. n.a. No evidence found for aberrant splicing (RT PCR experiments)

Patients

Family# Affected relativesClinical featuresRemarksReference
1 Unknown Adducted thumbs, Hydrocephalus   Finckh et al. (2000)
2 Unknown Adducted thumbs, Hydrocephalus   Finckh et al. (2000)

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