Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.92T>Cp.Val31AlaExon 3MissenseDisease-causingn.a.Not toleratedBenignHighly None  


Family# Affected relativesClinical featuresRemarksReference
1 1 (Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Hydrocephalus >3 yrs Nakakimura et al. (2008)
2 1 Adducted thumbs, Hydrocephalus, Hypotonia Plus: 1q terminal deletion and many features thereof. > 5 yrs Hiraki et al. (2008)


2008Hiraki et al.Two new cases of pure 1q terminal deletion presenting with brain malformations Am J med Genet A 146A1241-1247 18384145
2008Nakakimura et al.Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review J Pediatr Surg 43(5)E13-E17 18485929