CAVIN3 caveolae associated protein 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 40 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
40 |
 |
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
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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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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 | HSRBC |
| SYNONYM | PRKCDBP |
| SYNONYM | SRBC |
| SYNONYM | cavin-3 |
| MIM | 618303 OMIM |
| HGNC | HGNC:9400 HGNC |
| Ensembl | ENSG00000170955 Ensembl |
| AllianceGenome | HGNC:9400 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000303927.4 | hg38 | chr11 | 6,318,946 | 6,320,501 | 1,556 |
| ENST00000530979.1 | hg38 | chr11 | 6,319,144 | 6,320,532 | 1,389 |
| ENST00000303927.4 | hg19 | chr11 | 6,340,176 | 6,341,731 | 1,556 |
| ENST00000530979.1 | hg19 | chr11 | 6,340,374 | 6,341,762 | 1,389 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | TSG |
| start | 6,340,175 |
| Gene Symbol | PRKCDBP |
| Entrez GeneId | 112,464 |
| Chr Band | 11p15.4 |
| end | 6,341,739 |
| chr | chr11 |
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