UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2

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Information
Clinical Significance
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Frequency
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Information

Symbol: UQCC2
Type: protein-coding
Description: ubiquinol-cytochrome c reductase complex assembly factor 2
Entrez Gene ID: 84300
Genome: hg19
Position: chr6:33,664,541-33,679,477
Genome: hg38
Position: chr6:33,696,764-33,711,700
MIM: 614461 OMIM
HGNC: HGNC:21237 HGNC
Ensembl: ENSG00000137288 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	4
Benign	0	24
Likely benign	0	42
Conflicting classifications of pathogenicity	0	2
no classification for the single variant	0	4
not provided	36	0
Uncertain significance	0	34

Ranking

	ClinVar
	0
	0
	16
	82
	4

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

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	C6orf125
SYNONYM	C6orf126
SYNONYM	Cbp6
SYNONYM	M19
SYNONYM	MC3DN7
SYNONYM	MNF1
SYNONYM	bA6B20.2
MIM	614461 OMIM
HGNC	HGNC:21237 HGNC
Ensembl	ENSG00000137288 Ensembl
AllianceGenome	HGNC:21237

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000607484.6	hg38	chr6	33,696,764	33,711,700	14,937
ENST00000374214.3	hg38	chr6	33,697,568	33,711,727	14,160
ENST00000607484.6	hg19	chr6	33,664,541	33,679,477	14,937
ENST00000374214.3	hg19	chr6	33,665,345	33,679,504	14,160

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