C17orf49 chromosome 17 open reading frame 49

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Information

Symbol: C17orf49
Type: protein-coding
Description: chromosome 17 open reading frame 49
Entrez Gene ID: 124944
Genome: hg19
Position: chr17:6,917,814-6,920,694
Genome: hg38
Position: chr17:7,014,495-7,017,375
MIM: 617215 OMIM
HGNC: HGNC:28737 HGNC
Ensembl: ENSG00000258315 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar

Ranking

	ClinVar
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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	BAP18
SYNONYM	HEPIS
MIM	617215 OMIM
HGNC	HGNC:28737 HGNC
Ensembl	ENSG00000258315 Ensembl
AllianceGenome	HGNC:28737

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000546495.5	hg38	chr17	7,014,495	7,017,375	2,881
ENST00000552775.1	hg38	chr17	7,015,040	7,017,520	2,481
ENST00000439424.6	hg38	chr17	7,014,782	7,017,520	2,739
ENST00000546760.5	hg38	chr17	7,014,753	7,017,506	2,754
ENST00000552402.5	hg38	chr17	7,014,769	7,017,519	2,751
ENST00000546495.5	hg19	chr17	6,917,814	6,920,694	2,881
ENST00000546760.5	hg19	chr17	6,918,072	6,920,825	2,754
ENST00000552402.5	hg19	chr17	6,918,088	6,920,838	2,751
ENST00000439424.6	hg19	chr17	6,918,101	6,920,839	2,739
ENST00000552775.1	hg19	chr17	6,918,359	6,920,839	2,481

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