MED12 mediator complex subunit 12

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: MED12
Type: protein-coding
Description: mediator complex subunit 12
Entrez Gene ID: 9968
Genome: hg19
Position: chrX:70,338,446-70,362,300
Genome: hg38
Position: chrX:71,118,596-71,142,450
MIM: 300188 OMIM
HGNC: HGNC:11957 HGNC
Ensembl: ENSG00000184634 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	7	60
Likely pathogenic	2	102
Benign	0	414
Likely benign	1	1,400
Conflicting classifications of pathogenicity	0	176
not provided	89	92
other	0	6
Uncertain significance	6	1,266

Ranking

	ClinVar
	0
	0
	652
	2,396
	38

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

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	ARC240
SYNONYM	CAGH45
SYNONYM	FGS1
SYNONYM	HDKR
SYNONYM	HOPA
SYNONYM	Kto
SYNONYM	MED12S
SYNONYM	OHDOX
SYNONYM	OKS
SYNONYM	OPA1
SYNONYM	TNRC11
SYNONYM	TRAP230
MIM	300188 OMIM
HGNC	HGNC:11957 HGNC
Ensembl	ENSG00000184634 Ensembl
AllianceGenome	HGNC:11957

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000374102.6	hg38	chrX	71,118,629	71,142,450	23,822
ENST00000690242.1	hg38	chrX	71,118,543	71,142,450	23,908
ENST00000687382.1	hg38	chrX	71,118,556	71,142,324	23,769
ENST00000374080.8	hg38	chrX	71,118,596	71,142,450	23,855
ENST00000692304.1	hg38	chrX	71,118,543	71,144,103	25,561
ENST00000690145.1	hg38	chrX	71,118,725	71,142,387	23,663
ENST00000333646.11	hg38	chrX	71,118,596	71,142,442	23,847
ENST00000690242.1	hg19	chrX	70,338,393	70,362,300	23,908
ENST00000333646.11	hg19	chrX	70,338,446	70,362,292	23,847
ENST00000374080.8	hg19	chrX	70,338,446	70,362,300	23,855
ENST00000374102.6	hg19	chrX	70,338,479	70,362,300	23,822
ENST00000687382.1	hg19	chrX	70,338,406	70,362,174	23,769
ENST00000690145.1	hg19	chrX	70,338,575	70,362,237	23,663
ENST00000692304.1	hg19	chrX	70,338,393	70,363,953	25,561

Key	Value
strand	+
start	70,338,405
Vogelstein	OG
Gene Symbol	MED12
Entrez GeneId	9,968
Chr Band	Xq13
end	70,362,303
chr	chrX
Name	mediator complex subunit 12

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