COX6A1 cytochrome c oxidase subunit 6A1

Information
Symbol
COX6A1
Type
protein-coding
Description
cytochrome c oxidase subunit 6A1
Entrez Gene ID
1337
Genome
hg19
Position
chr12:120,875,916-120,878,533
Genome
hg38
Position
chr12:120,438,113-120,440,730
MIM
602072 OMIM
HGNC
HGNC:2277 HGNC
Ensembl
ENSG00000111775 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 14
Likely benign 0 78
Uncertain significance 0 88
Ranking
ClinVar
0
0
28
150
0
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
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CMTRID
SYNONYM COX6A
SYNONYM COX6AL
MIM 602072 OMIM
HGNC HGNC:2277 HGNC
Ensembl ENSG00000111775 Ensembl
AllianceGenome HGNC:2277
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000229379.3 hg38 chr12 120,438,113 120,440,730 2,618
ENST00000229379.3 hg19 chr12 120,875,916 120,878,533 2,618
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