Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1765T>Cp.Tyr589HisExon 14MissenseDisease-causingKey residueNot toleratedProbably damagingHighly Ig 6 Mutation segregates with the disease


Family# Affected relativesClinical featuresRemarksReference
1 3 (Dys)agenesis corpus callosum, Adducted thumbs, Hydrocephalus Index case: stillborn. 3/3 mutation found. Terminated pregnancies Senat et al. (2001)


2001Senat et al.Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases Prenat Diagn 21(13)1129-1132 11787037