COX8A cytochrome c oxidase subunit 8A
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 12 |
Likely benign | 0 | 24 |
Uncertain significance | 0 | 12 |
Ranking
ClinVar | |
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0 |
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0 |
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12 |
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30 |
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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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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | COX |
SYNONYM | COX8 |
SYNONYM | COX8-2 |
SYNONYM | COX8L |
SYNONYM | MC4DN15 |
SYNONYM | VIII |
SYNONYM | VIII-L |
MIM | 123870 OMIM |
HGNC | HGNC:2294 HGNC |
Ensembl | ENSG00000176340 Ensembl |
AllianceGenome | HGNC:2294 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000314133.4 | hg38 | chr11 | 63,974,620 | 63,976,543 | 1,924 |
ENST00000314133.4 | hg19 | chr11 | 63,742,092 | 63,744,015 | 1,924 |
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