MED13L mediator complex subunit 13L

Information
Symbol
MED13L
Type
protein-coding
Description
mediator complex subunit 13L
Entrez Gene ID
23389
Genome
hg19
Position
chr12:116,396,381-116,715,498
Genome
hg38
Position
chr12:115,958,576-116,277,693
MIM
608771 OMIM
HGNC
HGNC:22962 HGNC
Ensembl
ENSG00000123066 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 302
Likely pathogenic 1 148
Benign 24 368
Likely benign 0 914
Conflicting classifications of pathogenicity 0 68
Uncertain significance 0 788
Ranking
ClinVar
0
0
360
1,974
52
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 MRFACD
SYNONYM PROSIT240
SYNONYM THRAP2
SYNONYM TRAP240L
MIM 608771 OMIM
HGNC HGNC:22962 HGNC
Ensembl ENSG00000123066 Ensembl
AllianceGenome HGNC:22962
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000281928.9 hg38 chr12 115,958,576 116,277,693 319,118
ENST00000650226.1 hg38 chr12 115,959,261 116,277,174 317,914
ENST00000281928.9 hg19 chr12 116,396,381 116,715,498 319,118
ENST00000650226.1 hg19 chr12 116,397,066 116,714,979 317,914
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