MICOS13 mitochondrial contact site and cristae organizing system subunit 13

Information
Symbol
MICOS13
Type
protein-coding
Description
mitochondrial contact site and cristae organizing system subunit 13
Entrez Gene ID
125988
Genome
hg19
Position
chr19:5,678,433-5,680,263
Genome
hg38
Position
chr19:5,678,422-5,680,252
MIM
616658 OMIM
HGNC
HGNC:33702 HGNC
Ensembl
ENSG00000174917 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 4
Benign 0 2
Likely benign 0 28
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 12
Ranking
ClinVar
0
0
4
42
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 C19orf70
SYNONYM MIC12
SYNONYM MIC13
SYNONYM P117
SYNONYM QIL1
MIM 616658 OMIM
HGNC HGNC:33702 HGNC
Ensembl ENSG00000174917 Ensembl
AllianceGenome HGNC:33702
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000590389.5 hg38 chr19 5,678,832 5,680,194 1,363
ENST00000587589.1 hg38 chr19 5,678,915 5,680,488 1,574
ENST00000587950.5 hg38 chr19 5,678,422 5,680,252 1,831
ENST00000309324.9 hg38 chr19 5,678,422 5,680,516 2,095
ENST00000587950.5 hg19 chr19 5,678,433 5,680,263 1,831
ENST00000309324.9 hg19 chr19 5,678,433 5,680,527 2,095
ENST00000590389.5 hg19 chr19 5,678,843 5,680,205 1,363
ENST00000587589.1 hg19 chr19 5,678,926 5,680,499 1,574
Genome browser