Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3323-30G>A	none	Intron 24	Intronic variation	Non disease-causing	n.a.	n.a.	n.a.	n.a.	n.a.	Identified together with a pathogenic mutation p.Ser1224Leu. Not found in 100 control chromosomes (rare variant).

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Hydrocephalus, ?		Saugier-Veber et al. (1998)

Year	Author	Title	Journal	Volume	Pages	Weblink
1998	Saugier-Veber et al.	Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis	Hum. Mutat.	12	259-266	9744477