MED1 mediator complex subunit 1

Information
Symbol
MED1
Type
protein-coding
Description
mediator complex subunit 1
Entrez Gene ID
5469
Genome
hg19
Position
chr17:37,560,538-37,607,516
Genome
hg38
Position
chr17:39,404,285-39,451,263
MIM
604311 OMIM
HGNC
HGNC:9234 HGNC
Ensembl
ENSG00000125686 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 14
Uncertain significance 0 102
Ranking
ClinVar
0
0
0
106
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
[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 CRSP1
SYNONYM CRSP200
SYNONYM DRIP205
SYNONYM DRIP230
SYNONYM PBP
SYNONYM PPARBP
SYNONYM PPARGBP
SYNONYM RB18A
SYNONYM TRAP220
SYNONYM TRIP2
MIM 604311 OMIM
HGNC HGNC:9234 HGNC
Ensembl ENSG00000125686 Ensembl
AllianceGenome HGNC:9234
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000300651.11 hg38 chr17 39,404,285 39,451,263 46,979
ENST00000394287.7 hg38 chr17 39,404,285 39,451,268 46,984
ENST00000300651.11 hg19 chr17 37,560,538 37,607,516 46,979
ENST00000394287.7 hg19 chr17 37,560,538 37,607,521 46,984
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