Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1979 del Ap.Lys661AsnfsX32Exon 16Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 1  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hydrocephalus 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