Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2810G>Cp.Arg937ProExon 21MissenseDisease-causingSurface siteToleratedPossibly damagingLow Fn 5 In article c.2809G>C


Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus Contractures of the feet, hyperactive reflexes with ankle and knee clonus. Died at 4 months Wilson et al. (2009)


2009Wilson et al.Prenatal identification of a novel R937P L1CAM missense mutation Genet Test Mol Biomarkers 13(4)515-519 19594370