Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1880C>Tp.Thr627MetExon 15MissenseLikely disease-causingSurface siteNot toleratedBenignLow Fn 1  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 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