Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Claes et al.	1998	Hum. Mutat.	S240-S241	Suppl 1	Hydrocephalus and spastic paraplegia result from a donor splice site mutation (287+1GtoA) in the L1CAM gene in a Venezuelan pedigree	9452098

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
n.a.	Intron 21	c.2872+1G>T	p.?	Splice site	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	Unknown	c.2872+1G>T	p.?	Intron 21	Hydrocephalus, Spastic paraplegia