Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.3716G>A	p.Gly1239Glu	Exon 28	Missense	Non disease-causing	n.a.	Not tolerated	Benign	Moderately	Cytopl.	Also found in healthy (male) family member. Found together with a disease-causing mutation p.Cys497Tyr

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Hydrocephalus	Died shortly after birth.	Finckh et al. (2000)

Year	Author	Title	Journal	Volume	Pages	Weblink
2000	Finckh et al.	Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease	Am. J. Med. Genet.	92	40-46	10797421