Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1438G>Ap.Gly480ArgExon 12MissenseDisease-causingKey residueNot toleratedProbably damagingModerately Ig 5  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 2 Hydrocephalus, ? Two terminated pregnacies (male) because of severe hydrocephalus Vos et al. (2010)

References

YearAuthorTitleJournalVolumePagesWeblink
2010Vos et al.Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis J.Med.Genet 47(3)169-175 19846429