CCDC62 coiled-coil domain containing 62

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Frequency
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Information

Symbol: CCDC62
Type: protein-coding
Description: coiled-coil domain containing 62
Entrez Gene ID: 84660
Genome: hg19
Position: chr12:123,259,119-123,312,075
Genome: hg38
Position: chr12:122,774,572-122,827,528
MIM: 613481 OMIM
HGNC: HGNC:30723 HGNC
Ensembl: ENSG00000130783 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	6
Likely benign	0	4
Uncertain significance	0	74

Ranking

	ClinVar
	0
	0
	0
	84
	2

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	CT109
SYNONYM	ERAP75
SYNONYM	SPGF67
SYNONYM	TSP-NY
MIM	613481 OMIM
HGNC	HGNC:30723 HGNC
Ensembl	ENSG00000130783 Ensembl
AllianceGenome	HGNC:30723

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000537566.5	hg38	chr12	122,776,558	122,827,378	50,821
ENST00000392441.8	hg38	chr12	122,774,526	122,827,211	52,686
ENST00000392440.3	hg38	chr12	122,788,785	122,827,211	38,427
ENST00000253079.11	hg38	chr12	122,774,572	122,827,528	52,957
ENST00000392441.8	hg19	chr12	123,259,073	123,311,758	52,686
ENST00000253079.11	hg19	chr12	123,259,119	123,312,075	52,957
ENST00000537566.5	hg19	chr12	123,261,105	123,311,925	50,821
ENST00000392440.3	hg19	chr12	123,273,332	123,311,758	38,427

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