Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.645C>Tp.=Exon 6RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. Ig 2 Splice defect: 51 bp deleted at the 3'site of exon 6. Proven germline mosaicism by mother


Family# Affected relativesClinical featuresRemarksReference
1 2 Adducted thumbs, 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