MDM1 Mdm1 nuclear protein
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 8 |
| Uncertain significance | 0 | 84 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
96 |
 |
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
Search Word
| 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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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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 | ||||||||||||||
Search Word
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| MIM | 613813 OMIM |
| HGNC | HGNC:29917 HGNC |
| Ensembl | ENSG00000111554 Ensembl |
| AllianceGenome | HGNC:29917 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000430606.3 | hg38 | chr12 | 68,325,121 | 68,332,381 | 7,261 |
| ENST00000411698.6 | hg38 | chr12 | 68,294,863 | 68,332,286 | 37,424 |
| ENST00000393543.7 | hg38 | chr12 | 68,325,005 | 68,332,324 | 7,320 |
| ENST00000682720.1 | hg38 | chr12 | 68,294,566 | 68,332,362 | 37,797 |
| ENST00000303145.11 | hg38 | chr12 | 68,294,568 | 68,332,332 | 37,765 |
| ENST00000682720.1 | hg19 | chr12 | 68,688,346 | 68,726,142 | 37,797 |
| ENST00000303145.11 | hg19 | chr12 | 68,688,348 | 68,726,112 | 37,765 |
| ENST00000411698.6 | hg19 | chr12 | 68,688,643 | 68,726,066 | 37,424 |
| ENST00000393543.7 | hg19 | chr12 | 68,718,785 | 68,726,104 | 7,320 |
| ENST00000430606.3 | hg19 | chr12 | 68,718,901 | 68,726,161 | 7,261 |
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