Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.3457+18C>TnoneIntron 25Intronic variationNon disease-causingn.a.n.a.n.a.n.a. n.a. Also a disease causing mutation was found in the patient: c.1547-13delC

Patients

References

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