MED14 mediator complex subunit 14
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 8 |
not provided | 6 | 0 |
Uncertain significance | 0 | 64 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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74 |
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4 |
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 | |||||
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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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Target data | : |
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 | CRSP150 |
SYNONYM | CRSP2 |
SYNONYM | CSRP |
SYNONYM | CXorf4 |
SYNONYM | DRIP150 |
SYNONYM | EXLM1 |
SYNONYM | RGR1 |
SYNONYM | TRAP170 |
MIM | 300182 OMIM |
HGNC | HGNC:2370 HGNC |
Ensembl | ENSG00000180182 Ensembl |
AllianceGenome | HGNC:2370 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000324817.6 | hg38 | chrX | 40,648,305 | 40,735,542 | 87,238 |
ENST00000324817.6 | hg19 | chrX | 40,507,557 | 40,594,794 | 87,238 |
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