PPP6R1 protein phosphatase 6 regulatory subunit 1
Information
- Symbol
- PPP6R1
- Type
- protein-coding
- Description
- protein phosphatase 6 regulatory subunit 1
- Entrez Gene ID
- 22870
- Genome
- hg19
- Position
- chr19:55,741,147-55,770,385
- Genome
- hg38
- Position
- chr19:55,229,779-55,259,017
- MIM
- 610875 OMIM
- HGNC
- HGNC:29195 HGNC
- Ensembl
- ENSG00000105063 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 136 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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140 |
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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
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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 |
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | KIAA1115 |
SYNONYM | PP6R1 |
SYNONYM | SAP190 |
SYNONYM | SAPS1 |
MIM | 610875 OMIM |
HGNC | HGNC:29195 HGNC |
Ensembl | ENSG00000105063 Ensembl |
AllianceGenome | HGNC:29195 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000587283.5 | hg38 | chr19 | 55,230,490 | 55,247,372 | 16,883 |
ENST00000412770.7 | hg38 | chr19 | 55,229,779 | 55,259,017 | 29,239 |
ENST00000412770.7 | hg19 | chr19 | 55,741,147 | 55,770,385 | 29,239 |
ENST00000587283.5 | hg19 | chr19 | 55,741,858 | 55,758,740 | 16,883 |
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