PPP1R1A protein phosphatase 1 regulatory inhibitor subunit 1A

Information
Symbol
PPP1R1A
Type
protein-coding
Description
protein phosphatase 1 regulatory inhibitor subunit 1A
Entrez Gene ID
5502
Genome
hg19
Position
chr12:54,973,030-54,982,443
Genome
hg38
Position
chr12:54,579,246-54,588,659
MIM
613246 OMIM
HGNC
HGNC:9286 HGNC
Ensembl
ENSG00000135447 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
36
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
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 I1
SYNONYM IPP1
MIM 613246 OMIM
HGNC HGNC:9286 HGNC
Ensembl ENSG00000135447 Ensembl
AllianceGenome HGNC:9286
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000547431.5 hg38 chr12 54,575,387 54,588,516 13,130
ENST00000257905.13 hg38 chr12 54,579,246 54,588,659 9,414
ENST00000547431.5 hg19 chr12 54,969,171 54,982,300 13,130
ENST00000257905.13 hg19 chr12 54,973,030 54,982,443 9,414
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