Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3323-17dupGnoneIntron 24Intronic variationNon disease-causingn.a.n.a.n.a.n.a. n.a. Variant also detected in two unaffected uncles of the index case


Family# Affected relativesClinical featuresRemarksReference
1 1 Hydrocephalus Died at the age of 10 months 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