Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.826T>C	p.Trp276Arg	Exon 8	Missense	Disease-causing	Key residue	Not tolerated	Probably damaging	Highly	Ig 3	de novo by mother or germline mosaicism by one of the grandparents

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	1	Adducted thumbs, Hydrocephalus		Vos et al. (2010)

Year	Author	Title	Journal	Volume	Pages	Weblink
2010	Vos et al.	Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis	J.Med.Genet	47(3)	169-175	19846429