PRDM12 PR/SET domain 12

Information
Symbol
PRDM12
Type
protein-coding
Description
PR/SET domain 12
Entrez Gene ID
59335
Genome
hg19
Position
chr9:133,539,981-133,558,370
Genome
hg38
Position
chr9:130,664,594-130,682,983
MIM
616458 OMIM
HGNC
HGNC:13997 HGNC
Ensembl
ENSG00000130711 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 6
Benign 0 32
Likely benign 0 212
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 250
Ranking
ClinVar
0
0
54
456
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 :
Filtering :
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 HSAN8
SYNONYM PFM9
MIM 616458 OMIM
HGNC HGNC:13997 HGNC
Ensembl ENSG00000130711 Ensembl
AllianceGenome HGNC:13997
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000253008.3 hg38 chr9 130,664,594 130,682,983 18,390
ENST00000676323.1 hg38 chr9 130,664,594 130,682,986 18,393
ENST00000253008.3 hg19 chr9 133,539,981 133,558,370 18,390
ENST00000676323.1 hg19 chr9 133,539,981 133,558,373 18,393
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