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
0
0
4
140
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
Target data :
MGeND data only
Category :
Search word :
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
Category :
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
TypeID
SYNONYM KIAA1115
SYNONYM PP6R1
SYNONYM SAP190
SYNONYM SAPS1
MIM 610875 OMIM
HGNC HGNC:29195 HGNC
Ensembl ENSG00000105063 Ensembl
AllianceGenome HGNC:29195
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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