Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.826T>Cp.Trp276ArgExon 8MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 3 de novo by mother or germline mosaicism by one of the grandparents


Family# Affected relativesClinical featuresRemarksReference
1 1 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