Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.316C>Tp.Gln106XExon 4NonsenseDisease-causingn.a. n.a.n.a. Ig 1  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 >2 Adducted thumbs, Hydrocephalus Oldest mutation carrier: 0 yr 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