Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1375C>Tp.Gln459XExon 11NonsenseDisease-causingn.a.n.a.n.a.n.a. Ig 5  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 9 (Dys)agenesis corpus callosum, Hydrocephalus Index case: terminated pregnancy. Case 2 > 6 yrs: HC, MR, SP, AT Silan et al (2005)

References

YearAuthorTitleJournalVolumePagesWeblink
2005Silan et alA novel L1CAM mutation with L1 spectrum disorders Prenat Diagn 25(1)57-59 15662685