PPTC7 protein phosphatase targeting COQ7

Information
Symbol
PPTC7
Type
protein-coding
Description
protein phosphatase targeting COQ7
Entrez Gene ID
160760
Genome
hg19
Position
chr12:110,971,050-111,021,123
Genome
hg38
Position
chr12:110,533,245-110,583,318
MIM
609668 OMIM
HGNC
HGNC:30695 HGNC
Ensembl
ENSG00000196850 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
14
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 :
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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 TA-PP2C
SYNONYM TAPP2C
MIM 609668 OMIM
HGNC HGNC:30695 HGNC
Ensembl ENSG00000196850 Ensembl
AllianceGenome HGNC:30695
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000354300.5 hg38 chr12 110,533,245 110,583,318 50,074
ENST00000354300.5 hg19 chr12 110,971,050 111,021,123 50,074
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