Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2572C>Tp.Gln858XExon 20NonsenseDisease-causingn.a.n.a.n.a.n.a. Fn 3  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 6 Hydrocephalus, ? HSAS 6/6 Saugier-Veber et al. (1998)

References

YearAuthorTitleJournalVolumePagesWeblink
1998Saugier-Veber et al.Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis Hum. Mutat. 12259-266 9744477