Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Vits et al.	1998	Hum. Mutation Suppl.	284-287	1	Evidence for somatic and germline mosaicism in CRASH syndrome	9452110

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 1	Exon 15	c.1895G>C	p.Arg632Pro	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	unknown	c.1895G>C	p.Arg632Pro	Exon 15	(Dys)agenesis corpus callosum, Adducted thumbs, Hirschsprung's disease, Mental retardation