オルニチントランスカルバミラーゼ欠損症

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_000531.6(OTC):c.867+1126A>G	OTC	Likely pathogenic	X	38269404	38269404	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000023.11:g.(?_38401255)_(38401693_?)del	OTC	Pathogenic	X	38260508	38260946	na	na	criteria provided, single submitter	-
Duplication	NM_000531.6(OTC):c.391_397dup (p.Ser133delinsIleValTer)	OTC	Pathogenic	X	38260529	38260530	G	GTATTGTC	criteria provided, single submitter	-
single nucleotide variant	NM_000531.6(OTC):c.961T>C (p.Ser321Pro)	OTC	Likely pathogenic	X	38271208	38271208	T	C	criteria provided, single submitter	-