MED11 mediator complex subunit 11
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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10 |
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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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MGeND data only
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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 | HSPC296 |
SYNONYM | NDDRSB |
MIM | 612383 OMIM |
HGNC | HGNC:32687 HGNC |
Ensembl | ENSG00000161920 Ensembl |
AllianceGenome | HGNC:32687 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000575284.5 | hg38 | chr17 | 4,731,428 | 4,733,312 | 1,885 |
ENST00000674339.1 | hg38 | chr17 | 4,731,428 | 4,733,608 | 2,181 |
ENST00000573708.1 | hg38 | chr17 | 4,731,431 | 4,732,433 | 1,003 |
ENST00000293777.6 | hg38 | chr17 | 4,731,428 | 4,733,607 | 2,180 |
ENST00000575284.5 | hg19 | chr17 | 4,634,723 | 4,636,607 | 1,885 |
ENST00000293777.6 | hg19 | chr17 | 4,634,723 | 4,636,902 | 2,180 |
ENST00000674339.1 | hg19 | chr17 | 4,634,723 | 4,636,903 | 2,181 |
ENST00000573708.1 | hg19 | chr17 | 4,634,726 | 4,635,728 | 1,003 |
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