Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1895G>Cp.Arg632ProExon 15MissenseDisease-causingSurface siteToleratedProbably damagingLow Fn 1  

Patients

Family# Affected relativesClinical featuresRemarksReference
1 unknown (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Mental retardation   Kaplan (1983), Vits et al. (1998)

References

YearAuthorTitleJournalVolumePagesWeblink
2000Kenwrick et al.Neural cell recognition molecule L1: relating biological complexity to human disease mutations Hum. Mol. Genet. 9879-886 10767310
1998Vits et al.Evidence for somatic and germline mosaicism in CRASH syndrome Hum. Mutation Suppl. 1284-287 9452110