MED20 mediator complex subunit 20
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 18 |
Uncertain significance | 0 | 34 |
Ranking
ClinVar | |
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0 |
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0 |
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2 |
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50 |
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2 |
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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | PRO0213 |
SYNONYM | SRB2 |
SYNONYM | TRFP |
MIM | 612915 OMIM |
HGNC | HGNC:16840 HGNC |
Ensembl | ENSG00000124641 Ensembl |
AllianceGenome | HGNC:16840 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000265350.9 | hg38 | chr6 | 41,905,354 | 41,921,139 | 15,786 |
ENST00000409060.1 | hg38 | chr6 | 41,908,952 | 41,921,093 | 12,142 |
ENST00000409312.5 | hg38 | chr6 | 41,906,804 | 41,921,119 | 14,316 |
ENST00000265350.9 | hg19 | chr6 | 41,873,092 | 41,888,877 | 15,786 |
ENST00000409312.5 | hg19 | chr6 | 41,874,542 | 41,888,857 | 14,316 |
ENST00000409060.1 | hg19 | chr6 | 41,876,690 | 41,888,831 | 12,142 |
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