Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1248delTp.Asn416LysfsX14Exon 10Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Ig 4  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 Unknown Hydrocephalus, ?   Fransen et al. (1996)

References

YearAuthorTitleJournalVolumePagesWeblink
1996Fransen et al.The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule Am. J. Med. Genet. 6473-77 8826452