PRKD2 protein kinase D2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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92 |
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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 | |||||||||||
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| 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 |
|---|---|
| SYNONYM | HSPC187 |
| SYNONYM | PKD2 |
| SYNONYM | nPKC-D2 |
| MIM | 607074 OMIM |
| HGNC | HGNC:17293 HGNC |
| Ensembl | ENSG00000105287 Ensembl |
| AllianceGenome | HGNC:17293 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000601806.5 | hg38 | chr19 | 46,674,275 | 46,717,082 | 42,808 |
| ENST00000433867.5 | hg38 | chr19 | 46,674,317 | 46,717,127 | 42,811 |
| ENST00000595515.5 | hg38 | chr19 | 46,674,508 | 46,717,115 | 42,608 |
| ENST00000600194.5 | hg38 | chr19 | 46,674,320 | 46,714,324 | 40,005 |
| ENST00000291281.9 | hg38 | chr19 | 46,674,316 | 46,717,114 | 42,799 |
| ENST00000291281.9 | hg19 | chr19 | 47,177,573 | 47,220,371 | 42,799 |
| ENST00000433867.5 | hg19 | chr19 | 47,177,574 | 47,220,384 | 42,811 |
| ENST00000595515.5 | hg19 | chr19 | 47,177,765 | 47,220,372 | 42,608 |
| ENST00000601806.5 | hg19 | chr19 | 47,177,532 | 47,220,339 | 42,808 |
| ENST00000600194.5 | hg19 | chr19 | 47,177,577 | 47,217,581 | 40,005 |
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