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.961T>C (p.Ser321Pro)	OTC	Likely pathogenic	X	38271208	38271208	T	C	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	-
Deletion	NC_000023.11:g.(?_38401255)_(38401693_?)del	OTC	Pathogenic	X	38260508	38260946	na	na	criteria provided, single submitter	-
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	-
Duplication	NM_000531.6(OTC):c.77+2dup	OTC	Likely pathogenic	X	38212027	38212028	G	GT	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_38381322)_(38413090_?)del	OTC	Pathogenic	X	38240575	38272343	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000531.6(OTC):c.593A>G (p.Asn198Ser)	OTC	Pathogenic	X	38262923	38262923	A	G	criteria provided, single submitter	ClinGen:CA412725470
single nucleotide variant	NM_000531.6(OTC):c.228A>C (p.Leu76Phe)	OTC	Likely pathogenic	X	38229060	38229060	A	C	criteria provided, single submitter	ClinGen:CA412716809
single nucleotide variant	NM_000531.5(OTC):c.-142G>A	OTC	Likely pathogenic	X	38211808	38211808	G	A	criteria provided, single submitter	ClinGen:CA658799698
single nucleotide variant	NM_000531.6(OTC):c.540+265G>A	OTC	Pathogenic	X	38260946	38260946	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658977