Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.1547-13delCp.?Intron 12RNA splicing defectDisease-causingn.a.n.a.n.a.n.a. n.a. De novo by mother. Not detected in unaffected brother. A new splice acceptor site is predicted


Family# Affected relativesClinical featuresRemarksReference
1 1 Adducted thumbs, Hydrocephalus, Mental retardation Died at the age of 1 yr Hubner et al (2004)


2004Hubner et alIntronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing Hum Mutat 23(5)526 15108295