SLC19A2 solute carrier family 19 member 2

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Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: SLC19A2
Type: protein-coding
Description: solute carrier family 19 member 2
Entrez Gene ID: 10560
Genome: hg19
Position: chr1:169,433,147-169,455,182
Genome: hg38
Position: chr1:169,463,909-169,485,944
MIM: 603941 OMIM
HGNC: HGNC:10938 HGNC
Ensembl: ENSG00000117479 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	74
Likely pathogenic	0	18
Benign	0	34
Likely benign	0	402
Conflicting classifications of pathogenicity	0	42
Uncertain significance	0	210

Ranking

	ClinVar
	0
	0
	82
	624
	12

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Target data	:	MGeND data only
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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	TC1
SYNONYM	THMD1
SYNONYM	THT1
SYNONYM	THTR1
SYNONYM	TRMA
MIM	603941 OMIM
HGNC	HGNC:10938 HGNC
Ensembl	ENSG00000117479 Ensembl
AllianceGenome	HGNC:10938

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000236137.10	hg38	chr1	169,463,909	169,485,944	22,036
ENST00000367804.4	hg38	chr1	169,463,929	169,485,931	22,003
ENST00000646596.1	hg38	chr1	169,464,048	169,485,941	21,894
ENST00000236137.10	hg19	chr1	169,433,147	169,455,182	22,036
ENST00000367804.4	hg19	chr1	169,433,167	169,455,169	22,003
ENST00000646596.1	hg19	chr1	169,433,286	169,455,179	21,894

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