IDS iduronate 2-sulfatase

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: IDS
Type: protein-coding
Description: iduronate 2-sulfatase
Entrez Gene ID: 3423
Genome: hg19
Position: chrX:148,558,519-148,586,836
Genome: hg38
Position: chrX:149,476,988-149,505,306
MIM: 300823 OMIM
HGNC: HGNC:5389 HGNC
Ensembl: ENSG00000010404 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	72	406
Likely pathogenic	0	194
Benign	0	149
Likely benign	0	638
Affects	0	4
Conflicting classifications of pathogenicity	0	54
no classification for the single variant	0	6
not provided	6	0
Uncertain significance	0	280

Ranking

	ClinVar
	0
	0
	204
	1,252
	133

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	ID2S
SYNONYM	MPS2
SYNONYM	SIDS
MIM	300823 OMIM
HGNC	HGNC:5389 HGNC
Ensembl	ENSG00000010404 Ensembl
AllianceGenome	HGNC:5389

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000340855.11	hg38	chrX	149,476,988	149,505,306	28,319
ENST00000370441.8	hg38	chrX	149,487,131	149,505,347	18,217
ENST00000428056.6	hg38	chrX	149,502,660	149,505,280	2,621
ENST00000340855.11	hg19	chrX	148,558,519	148,586,836	28,318
ENST00000370441.8	hg19	chrX	148,568,662	148,586,877	18,216
ENST00000428056.6	hg19	chrX	148,584,190	148,586,810	2,621

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