PPP1R12A protein phosphatase 1 regulatory subunit 12A

Information
Symbol
PPP1R12A
Type
protein-coding
Description
protein phosphatase 1 regulatory subunit 12A
Entrez Gene ID
4659
Genome
hg19
Position
chr12:80,167,348-80,328,877
Genome
hg38
Position
chr12:79,773,568-79,935,097
MIM
602021 OMIM
HGNC
HGNC:7618 HGNC
Ensembl
ENSG00000058272 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 18
Benign 0 48
Likely benign 0 50
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 146
Ranking
ClinVar
0
0
24
244
8
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
Category :
Search word :
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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 GUBS
SYNONYM M130
SYNONYM MBS
SYNONYM MYPT1
MIM 602021 OMIM
HGNC HGNC:7618 HGNC
Ensembl ENSG00000058272 Ensembl
AllianceGenome HGNC:7618
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000450142.7 hg38 chr12 79,773,568 79,935,097 161,530
ENST00000437004.6 hg38 chr12 79,774,406 79,935,460 161,055
ENST00000261207.9 hg38 chr12 79,773,563 79,935,455 161,893
ENST00000546369.5 hg38 chr12 79,775,923 79,913,911 137,989
ENST00000550107.5 hg38 chr12 79,775,929 79,934,931 159,003
ENST00000261207.9 hg19 chr12 80,167,343 80,329,235 161,893
ENST00000450142.7 hg19 chr12 80,167,348 80,328,877 161,530
ENST00000437004.6 hg19 chr12 80,168,186 80,329,240 161,055
ENST00000546369.5 hg19 chr12 80,169,703 80,307,691 137,989
ENST00000550107.5 hg19 chr12 80,169,709 80,328,711 159,003
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