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

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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.122A>G (p.Asp41Gly)	OTC	Likely pathogenic	X	38226588	38226588	A	G	criteria provided, single submitter	ClinGen:CA224455
single nucleotide variant	NM_000531.6(OTC):c.131C>T (p.Thr44Ile)	OTC	Pathogenic	X	38226597	38226597	C	T	criteria provided, single submitter	ClinGen:CA224459,UniProtKB:P00480#VAR_004848
Deletion	NM_000531.6(OTC):c.140del (p.Asn47fs)	OTC	Pathogenic	X	38226601	38226601	TA	T	criteria provided, single submitter	ClinGen:CA224462
single nucleotide variant	NM_000531.6(OTC):c.140A>T (p.Asn47Ile)	OTC	Pathogenic	X	38226606	38226606	A	T	criteria provided, single submitter	ClinGen:CA224465,UniProtKB:P00480#VAR_004852
Insertion	NM_000531.6(OTC):c.140_141insG (p.Asn47fs)	OTC	Likely pathogenic	X	38226606	38226607	A	AG	criteria provided, single submitter	ClinGen:CA224466
single nucleotide variant	NM_000531.6(OTC):c.154G>A (p.Glu52Lys)	OTC	Pathogenic	X	38226620	38226620	G	A	criteria provided, single submitter	ClinGen:CA224474
single nucleotide variant	NM_000531.6(OTC):c.154G>T (p.Glu52Ter)	OTC	Pathogenic	X	38226620	38226620	G	T	criteria provided, single submitter	ClinGen:CA224476
single nucleotide variant	NM_000531.6(OTC):c.156A>T (p.Glu52Asp)	OTC	Likely pathogenic	X	38226622	38226622	A	T	criteria provided, single submitter	ClinGen:CA224480
single nucleotide variant	NM_000531.6(OTC):c.158T>C (p.Ile53Thr)	OTC	Likely pathogenic	X	38226624	38226624	T	C	criteria provided, single submitter	ClinGen:CA224482
single nucleotide variant	NM_000531.6(OTC):c.167T>C (p.Met56Thr)	OTC	Likely pathogenic	X	38226633	38226633	T	C	criteria provided, single submitter	ClinGen:CA224487,UniProtKB:P00480#VAR_004855