Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3211_3213delAACp.Asn1071delExon 24DeletionDisease-causingSurface siten.a.n.a.Highly Fn 5  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 3 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