Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2892delGp.Gln965AsnfsX16Exon 22Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 4 c.2889delG in article

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