OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3

Information
Symbol
OPA3
Type
protein-coding
Description
outer mitochondrial membrane lipid metabolism regulator OPA3
Entrez Gene ID
80207
Genome
hg19
Position
chr19:46,031,025-46,088,060
Genome
hg38
Position
chr19:45,527,767-45,584,802
MIM
606580 OMIM
HGNC
HGNC:8142 HGNC
Ensembl
ENSG00000125741 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 32
Benign 0 110
Likely benign 0 342
Conflicting classifications of pathogenicity 0 106
not provided 0 2
Uncertain significance 0 580
Ranking
ClinVar
0
0
134
900
10
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 MGA3
MIM 606580 OMIM
HGNC HGNC:8142 HGNC
Ensembl ENSG00000125741 Ensembl
AllianceGenome HGNC:8142
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323060.4 hg38 chr19 45,527,767 45,584,802 57,036
ENST00000263275.5 hg38 chr19 45,546,281 45,584,802 38,522
ENST00000544371.1 hg38 chr19 45,552,884 45,602,212 49,329
ENST00000323060.4 hg19 chr19 46,031,025 46,088,060 57,036
ENST00000263275.5 hg19 chr19 46,049,539 46,088,060 38,522
ENST00000544371.1 hg19 chr19 46,056,142 46,105,470 49,329
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