Reference details

AuthorYearJournalPagesVolumeTitleWeblink
Vits et al.1998Hum. Mutation Suppl.284-2871Evidence for somatic and germline mosaicism in CRASH syndrome 9452110

Mutations mentioned in reference

Protein DomainExon/IntronDNA ChangeProtein ChangeTypeReported ClassificationDetailsLOVD ID
Fn 1Exon 15c.1895G>Cp.Arg632ProMissenseDisease-causing Details

Patients

Family# Affected relativesDNA changeProtein changeExon/IntronClinical featuresRemarks
1 unknown c.1895G>C p.Arg632ProExon 15 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Mental retardation