ATP6V0C ATPase H+ transporting V0 subunit c

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Information
Clinical Significance
Ranking
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Information

Symbol: ATP6V0C
Type: protein-coding
Description: ATPase H+ transporting V0 subunit c
Entrez Gene ID: 527
Genome: hg19
Position: chr16:2,563,953-2,570,219
Genome: hg38
Position: chr16:2,513,952-2,520,218
MIM: 108745 OMIM
HGNC: HGNC:855 HGNC
Ensembl: ENSG00000185883 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	20
Likely pathogenic	0	6
Uncertain significance	0	18

Ranking

	ClinVar
	0
	0
	0
	28
	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

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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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Target data	:	MGeND data only
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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	ATP6C
SYNONYM	ATP6L
SYNONYM	ATPL
SYNONYM	EPEO3
SYNONYM	VATL
SYNONYM	VPPC
SYNONYM	Vma3
MIM	108745 OMIM
HGNC	HGNC:855 HGNC
Ensembl	ENSG00000185883 Ensembl
AllianceGenome	HGNC:855

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000330398.9	hg38	chr16	2,513,952	2,520,218	6,267
ENST00000564973.1	hg38	chr16	2,518,999	2,520,218	1,220
ENST00000565223.1	hg38	chr16	2,514,294	2,519,920	5,627
ENST00000568562.1	hg38	chr16	2,513,976	2,519,679	5,704
ENST00000330398.9	hg19	chr16	2,563,953	2,570,219	6,267
ENST00000568562.1	hg19	chr16	2,563,977	2,569,680	5,704
ENST00000565223.1	hg19	chr16	2,564,295	2,569,921	5,627
ENST00000564973.1	hg19	chr16	2,569,000	2,570,219	1,220

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