Mutation Details

DNA changeProtein changeExon/intronTypeReported classificationBatemanSIFTPolyPhenConservedProtein domainRemarksLOVD ID
c.2307C>Tp.=Exon 18SilentNon disease-causingn.a.n.a.n.a.n.a. Fn 2 Found on the wild type allel of 2 obligate carriers of the family with the c.2302G>A variation in exon 18



1997Gu et al.Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus reveals eight novel mutations and suggests non-allelic genetic heterogeneity of the trait Am. J. Med. Genet. 71336-340 9268105