DRD2 dopamine receptor D2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 10 | 102 |
| Likely benign | 0 | 74 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| Uncertain significance | 0 | 70 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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24 |
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214 |
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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
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 | ||||||||||||||
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 |
|---|---|
| SYNONYM | D2DR |
| SYNONYM | D2R |
| MIM | 126450 OMIM |
| HGNC | HGNC:3023 HGNC |
| Ensembl | ENSG00000149295 Ensembl |
| AllianceGenome | HGNC:3023 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000346454.7 | hg38 | chr11 | 113,409,615 | 113,475,120 | 65,506 |
| ENST00000538967.5 | hg38 | chr11 | 113,410,572 | 113,424,651 | 14,080 |
| ENST00000544518.5 | hg38 | chr11 | 113,409,616 | 113,424,684 | 15,069 |
| ENST00000362072.8 | hg38 | chr11 | 113,409,605 | 113,475,398 | 65,794 |
| ENST00000542968.5 | hg38 | chr11 | 113,409,913 | 113,424,972 | 15,060 |
| ENST00000362072.8 | hg19 | chr11 | 113,280,327 | 113,346,120 | 65,794 |
| ENST00000346454.7 | hg19 | chr11 | 113,280,337 | 113,345,842 | 65,506 |
| ENST00000544518.5 | hg19 | chr11 | 113,280,338 | 113,295,406 | 15,069 |
| ENST00000542968.5 | hg19 | chr11 | 113,280,635 | 113,295,694 | 15,060 |
| ENST00000538967.5 | hg19 | chr11 | 113,281,294 | 113,295,373 | 14,080 |
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