PPP2R5D protein phosphatase 2 regulatory subunit B'delta

Information
Symbol
PPP2R5D
Type
protein-coding
Description
protein phosphatase 2 regulatory subunit B'delta
Entrez Gene ID
5528
Genome
hg19
Position
chr6:42,952,308-42,980,080
Genome
hg38
Position
chr6:42,984,570-43,012,342
MIM
601646 OMIM
HGNC
HGNC:9312 HGNC
Ensembl
ENSG00000112640 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 32
Likely pathogenic 0 24
Benign 0 72
Likely benign 0 416
Conflicting classifications of pathogenicity 0 40
Uncertain significance 0 398
Ranking
ClinVar
0
0
122
792
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 B56D
SYNONYM B56delta
SYNONYM HJS1
SYNONYM MRD35
MIM 601646 OMIM
HGNC HGNC:9312 HGNC
Ensembl ENSG00000112640 Ensembl
AllianceGenome HGNC:9312
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000472118.5 hg38 chr6 42,984,554 43,012,340 27,787
ENST00000394110.7 hg38 chr6 42,984,553 43,012,342 27,790
ENST00000485511.6 hg38 chr6 42,984,570 43,012,342 27,773
ENST00000461010.5 hg38 chr6 42,984,652 43,011,327 26,676
ENST00000394110.7 hg19 chr6 42,952,291 42,980,080 27,790
ENST00000472118.5 hg19 chr6 42,952,292 42,980,078 27,787
ENST00000485511.6 hg19 chr6 42,952,308 42,980,080 27,773
ENST00000461010.5 hg19 chr6 42,952,390 42,979,065 26,676
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