Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2885dupGp.Lys963GlnfsX41Exon 22Duplication; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 4 Family 1: de novo by mother or germline mosaic one of the grandparents


Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus > 4 yrs Vos et al. (2010)
2 3 Hydrocephalus, ?   Vos et al. (2010)


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