Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3457+18C>T	none	Intron 25	Intronic variation	Non disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	Also a disease causing mutation was found in the patient: c.1547-13delC

Patients

Year	Author	Title	Journal	Volume	Pages	Weblink
2004	Hubner et al	Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing	Hum Mutat	23(5)	526	15108295