Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.366delC	p.Ala123ProfsX21	Exon 4	Deletion; frameshift	Disease-causing	n.a.	n.a.	n.a.	n.a.	Ig 1	Before 365delC and T122fs

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	2	Hydrocephalus, ?	HSAS 2/2	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