Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.523+6T>GnoneIntron 5Intronic variationNon disease-causingn.a.n.a.n.a.n.a. n.a. Proven, no influence on RNA splicing


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation   Hofstra et al. (2002)


2002Hofstra et al.Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? J. Med. Genet 39 el 1 11897831
2004Okamoto et al.Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM J Hum Genet 49334-337 15148591