Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.523+5G>Ap.?Intron 5RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. n.a.  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 unknown Hydrocephalus   Hubner et al (2004)

References

YearAuthorTitleJournalVolumePagesWeblink
2004Hubner et alIntronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing Hum Mutat 23(5)526 15108295