シトリン欠損症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)	SLC25A13	Pathogenic	7	95751046	95751046	G	A	criteria provided, single submitter	-
Deletion	NM_014251.3(SLC25A13):c.1375del (p.Ala459fs)	SLC25A13	Pathogenic	7	95775945	95775945	GC	G	criteria provided, single submitter	-