Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.1379+5G>A	p.?	Intron 11	Intronic variation	Likely disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	Predicted splice defect

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Hydrocephalus	Family K8385	Du et al. (1998b)

Year	Author	Title	Journal	Volume	Pages	Weblink
1998b	Du et al.	Multiple exon screening using restriction endonucleases fingerprinting (REF): Detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene	Hum. Mutat.	11	222-230	9521424