COX7B cytochrome c oxidase subunit 7B

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: COX7B
Type: protein-coding
Description: cytochrome c oxidase subunit 7B
Entrez Gene ID: 1349
Genome: hg19
Position: chrX:77,154,965-77,162,873
Genome: hg38
Position: chrX:77,899,468-77,907,376
MIM: 300885 OMIM
HGNC: HGNC:2291 HGNC
Ensembl: ENSG00000131174 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	6
Likely pathogenic	0	2
Benign	0	6
Likely benign	0	28
Conflicting classifications of pathogenicity	0	4
not provided	6	0
Uncertain significance	0	16

Ranking

	ClinVar
	0
	0
	6
	42
	8

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	APLCC
SYNONYM	LSDMCA2
MIM	300885 OMIM
HGNC	HGNC:2291 HGNC
Ensembl	ENSG00000131174 Ensembl
AllianceGenome	HGNC:2291

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000647835.1	hg38	chrX	77,899,485	77,905,461	5,977
ENST00000650309.2	hg38	chrX	77,899,468	77,907,376	7,909
ENST00000373335.4	hg38	chrX	77,899,440	77,905,385	5,946
ENST00000475465.1	hg38	chrX	77,899,463	77,903,196	3,734
ENST00000373335.4	hg19	chrX	77,154,937	77,160,882	5,946
ENST00000475465.1	hg19	chrX	77,154,960	77,158,693	3,734
ENST00000650309.2	hg19	chrX	77,154,965	77,162,873	7,909
ENST00000647835.1	hg19	chrX	77,154,982	77,160,958	5,977

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