MED13 mediator complex subunit 13

Information
Symbol
MED13
Type
protein-coding
Description
mediator complex subunit 13
Entrez Gene ID
9969
Genome
hg19
Position
chr17:60,019,966-60,142,639
Genome
hg38
Position
chr17:61,942,605-62,065,278
MIM
603808 OMIM
HGNC
HGNC:22474 HGNC
Ensembl
ENSG00000108510 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 44
Likely pathogenic 0 34
Benign 0 50
Likely benign 0 168
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 404
Ranking
ClinVar
0
0
76
598
12
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
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 ARC250
SYNONYM DRIP250
SYNONYM HSPC221
SYNONYM MRD61
SYNONYM THRAP1
SYNONYM TRAP240
MIM 603808 OMIM
HGNC HGNC:22474 HGNC
Ensembl ENSG00000108510 Ensembl
AllianceGenome HGNC:22474
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000397786.7 hg38 chr17 61,942,605 62,065,278 122,674
ENST00000397786.7 hg19 chr17 60,019,966 60,142,639 122,674
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