Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.828G>Ap.Trp276XExon 8NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 3  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus, ? Index case >9 yrs. Uncle died two days after birth. Family HC10 Gu et al. (1996)

References

YearAuthorTitleJournalVolumePagesWeblink
1996Gu et al.Five novel mutations in the L1CAM gene in families with X linked hydrocephalus J. Med. Genet. 33103-106 8929944