PPP1R12C protein phosphatase 1 regulatory subunit 12C

Information
Symbol
PPP1R12C
Type
protein-coding
Description
protein phosphatase 1 regulatory subunit 12C
Entrez Gene ID
54776
Genome
hg19
Position
chr19:55,602,286-55,629,005
Genome
hg38
Position
chr19:55,090,918-55,117,637
MIM
613245 OMIM
HGNC
HGNC:14947 HGNC
Ensembl
ENSG00000125503 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 16
Uncertain significance 0 94
Ranking
ClinVar
0
0
0
116
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 :
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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 :
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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
Entry Origin Type Annotation
TypeID
SYNONYM AAVS1
SYNONYM LENG3
SYNONYM MBS85
SYNONYM p84
SYNONYM p85
MIM 613245 OMIM
HGNC HGNC:14947 HGNC
Ensembl ENSG00000125503 Ensembl
AllianceGenome HGNC:14947
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000435544.6 hg38 chr19 55,091,361 55,113,618 22,258
ENST00000263433.8 hg38 chr19 55,090,918 55,117,637 26,720
ENST00000263433.8 hg19 chr19 55,602,286 55,629,005 26,720
ENST00000435544.6 hg19 chr19 55,602,729 55,624,986 22,258
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