Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2872+1G>Tp.?Intron 21Splice siteDisease-causingn.a.n.a.n.a.n.a. n.a.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 Unknown Hydrocephalus, Spastic paraplegia   Claes et al. (1998)

References

YearAuthorTitleJournalVolumePagesWeblink
1998Claes et al.Hydrocephalus and spastic paraplegia result from a donor splice site mutation (287+1GtoA) in the L1CAM gene in a Venezuelan pedigree Hum. Mutat. Suppl 1S240-S241 9452098