Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2810G>C	p.Arg937Pro	Exon 21	Missense	Disease-causing	Surface site	Tolerated	Possibly damaging	Low	Fn 5	In article c.2809G>C

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Hydrocephalus	Contractures of the feet, hyperactive reflexes with ankle and knee clonus. Died at 4 months	Wilson et al. (2009)

Year	Author	Title	Journal	Volume	Pages	Weblink
2009	Wilson et al.	Prenatal identification of a novel R937P L1CAM missense mutation	Genet Test Mol Biomarkers	13(4)	515-519	19594370