PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A
Information
- Symbol
- PPP1R14A
- Type
- protein-coding
- Description
- protein phosphatase 1 regulatory inhibitor subunit 14A
- Entrez Gene ID
- 94274
- Genome
- hg19
- Position
- chr19:38,741,877-38,747,014
- Genome
- hg38
- Position
- chr19:38,251,237-38,256,374
- MIM
- 608153 OMIM
- HGNC
- HGNC:14871 HGNC
- Ensembl
- ENSG00000167641 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
28 |
 |
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
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MGeND data only
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| Filtering | : |
| 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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| Category | : |
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| Search word | : | |
| Filtering | : |
| 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 | CPI-17 |
| SYNONYM | CPI17 |
| SYNONYM | PPP1INL |
| MIM | 608153 OMIM |
| HGNC | HGNC:14871 HGNC |
| Ensembl | ENSG00000167641 Ensembl |
| AllianceGenome | HGNC:14871 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000587515.5 | hg38 | chr19 | 38,251,237 | 38,253,257 | 2,021 |
| ENST00000347262.8 | hg38 | chr19 | 38,251,237 | 38,256,532 | 5,296 |
| ENST00000591585.1 | hg38 | chr19 | 38,251,865 | 38,256,532 | 4,668 |
| ENST00000301242.9 | hg38 | chr19 | 38,251,237 | 38,256,374 | 5,138 |
| ENST00000591291.5 | hg38 | chr19 | 38,251,237 | 38,256,372 | 5,136 |
| ENST00000587515.5 | hg19 | chr19 | 38,741,877 | 38,743,897 | 2,021 |
| ENST00000591291.5 | hg19 | chr19 | 38,741,877 | 38,747,012 | 5,136 |
| ENST00000301242.9 | hg19 | chr19 | 38,741,877 | 38,747,014 | 5,138 |
| ENST00000347262.8 | hg19 | chr19 | 38,741,877 | 38,747,172 | 5,296 |
| ENST00000591585.1 | hg19 | chr19 | 38,742,505 | 38,747,172 | 4,668 |
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