Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2421_2422delTGp.Gly808ArgfsX9Exon 18Deletion; frameshiftDisease-causingn.a.n.a.n.a.n.a. Fn 2  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus, Mental retardation, Spastic paraplegia > 3 yr Okamoto et al. (1997a)

References

YearAuthorTitleJournalVolumePagesWeblink
1997aOkamoto et al.Hydrocephalus and Hirschprung's disease in a patient with a mutation of L1CAM J. Med. Genet. 34670-671 15148591