Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1379+5G>Ap.?Intron 11Intronic variationLikely disease-causingn.a.n.a.n.a.n.a. n.a. Predicted splice defect

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus Family K8385 Du et al. (1998b)

References

YearAuthorTitleJournalVolumePagesWeblink
1998bDu et al.Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene Hum. Mutat. 11222-230 9521424