Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2313 del Cp.Phe772SerfsX79Exon 18Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 2 c.2310delC in publication

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 Unknown 11 yrs 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