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
Deletion	NM_000531.6(OTC):c.29_32del (p.Asn10fs)	OTC	Pathogenic	X	38211976	38211979	TAAAC	T	criteria provided, single submitter	ClinGen:CA224540
single nucleotide variant	NM_000531.6(OTC):c.3G>A (p.Met1Ile)	OTC	Pathogenic	X	38211952	38211952	G	A	criteria provided, single submitter	ClinGen:CA224584
single nucleotide variant	NM_000531.6(OTC):c.2T>C (p.Met1Thr)	OTC	Pathogenic	X	38211951	38211951	T	C	criteria provided, single submitter	ClinGen:CA224547
single nucleotide variant	NM_000531.5(OTC):c.-142G>A	OTC	Likely pathogenic	X	38211808	38211808	G	A	criteria provided, single submitter	ClinGen:CA658799698