Mutation Details

DNA change	Protein change	Exon/intron	Type	Reported classification	Bateman	SIFT	PolyPhen	Conserved	Protein domain	Remarks	LOVD ID
c.2219G>A	p.Trp740X	Exon 18	Nonsense	Disease-causing		n.a.	n.a.	n.a.	Fn 2

Patients

Family	# Affected relatives	Clinical features	Remarks	Reference
1	Unknown	Unknown		Y.Zarate

Year	Author	Title	Journal	Volume	Pages	Weblink
	Y.Zarate		Personal communication