PPP1R17 protein phosphatase 1 regulatory subunit 17
Information
- Symbol
- PPP1R17
- Type
- protein-coding
- Description
- protein phosphatase 1 regulatory subunit 17
- Entrez Gene ID
- 10842
- Genome
- hg19
- Position
- chr7:31,726,829-31,748,069
- Genome
- hg38
- Position
- chr7:31,687,215-31,708,455
- MIM
- 604088 OMIM
- HGNC
- HGNC:16973 HGNC
- Ensembl
- ENSG00000106341 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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16 |
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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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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 | C7orf16 |
| SYNONYM | GSBS |
| MIM | 604088 OMIM |
| HGNC | HGNC:16973 HGNC |
| Ensembl | ENSG00000106341 Ensembl |
| AllianceGenome | HGNC:16973 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000409146.3 | hg38 | chr7 | 31,687,215 | 31,707,409 | 20,195 |
| ENST00000342032.8 | hg38 | chr7 | 31,687,215 | 31,708,455 | 21,241 |
| ENST00000409146.3 | hg19 | chr7 | 31,726,829 | 31,747,023 | 20,195 |
| ENST00000342032.8 | hg19 | chr7 | 31,726,829 | 31,748,069 | 21,241 |
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