SLC33A1 solute carrier family 33 member 1

Go to:

Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
Genome browser

Information

Symbol: SLC33A1
Type: protein-coding
Description: solute carrier family 33 member 1
Entrez Gene ID: 9197
Genome: hg19
Position: chr3:155,538,813-155,572,216
Genome: hg38
Position: chr3:155,821,024-155,854,427
MIM: 603690 OMIM
HGNC: HGNC:95 HGNC
Ensembl: ENSG00000169359 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	14
Likely pathogenic	0	2
Benign	0	46
Likely benign	0	142
Conflicting classifications of pathogenicity	0	6
Uncertain significance	0	224

Ranking

	ClinVar
	0
	0
	50
	348
	16

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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	ACATN
SYNONYM	AT-1
SYNONYM	AT1
SYNONYM	CCHLND
SYNONYM	HPBDS
SYNONYM	SPG42
MIM	603690 OMIM
HGNC	HGNC:95 HGNC
Ensembl	ENSG00000169359 Ensembl
AllianceGenome	HGNC:95

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000359479.7	hg38	chr3	155,826,526	155,854,429	27,904
ENST00000646424.1	hg38	chr3	155,827,269	155,854,446	27,178
ENST00000643144.2	hg38	chr3	155,821,024	155,854,427	33,404
ENST00000643144.2	hg19	chr3	155,538,813	155,572,216	33,404
ENST00000359479.7	hg19	chr3	155,544,315	155,572,218	27,904
ENST00000646424.1	hg19	chr3	155,545,058	155,572,235	27,178

Genome browser