Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Hiraki et al.	2008	Am J med Genet A	1241-1247	146A	Two new cases of pure 1q terminal deletion presenting with brain malformations	18384145

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
None	Exon 3	c.92T>C	p.Val31Ala	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	1	c.92T>C	p.Val31Ala	Exon 3	Adducted thumbs, Hydrocephalus, Hypotonia	Plus: 1q terminal deletion and many features thereof. > 5 yrs