Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2307C>T	p.=	Exon 18	Silent	Non disease-causing	n.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

Patients

Year	Author	Title	Journal	Volume	Pages	Weblink
1997	Gu 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.	71	336-340	9268105