MED31 mediator complex subunit 31
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
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0 |
 |
10 |
 |
0 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | 3110004H13Rik |
| SYNONYM | CGI-125 |
| SYNONYM | SEP10 |
| SYNONYM | Soh1 |
| MIM | 620492 OMIM |
| HGNC | HGNC:24260 HGNC |
| Ensembl | ENSG00000108590 Ensembl |
| AllianceGenome | HGNC:24260 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000575197.1 | hg38 | chr17 | 6,644,279 | 6,651,634 | 7,356 |
| ENST00000574128.1 | hg38 | chr17 | 6,644,295 | 6,651,427 | 7,133 |
| ENST00000225728.8 | hg38 | chr17 | 6,643,311 | 6,651,605 | 8,295 |
| ENST00000225728.8 | hg19 | chr17 | 6,546,631 | 6,554,925 | 8,295 |
| ENST00000575197.1 | hg19 | chr17 | 6,547,599 | 6,554,954 | 7,356 |
| ENST00000574128.1 | hg19 | chr17 | 6,547,615 | 6,554,747 | 7,133 |
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