Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2262G>Ap.Trp754XExon 18NonsenseDisease-causingn.a.n.a.n.a.n.a. Fn 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus, ? Death < 1 yr 2/2 MacFarlane et al. (1997)

References

YearAuthorTitleJournalVolumePagesWeblink
1997MacFarlane et al.Nine novel L1CAM mutations in families with X-linked Hydrocephalus Hum. Mutat. 9512-518 9195224