PRR12 proline rich 12

Information
Symbol
PRR12
Type
protein-coding
Description
proline rich 12
Entrez Gene ID
57479
Genome
hg19
Position
chr19:50,094,439-50,129,696
Genome
hg38
Position
chr19:49,591,182-49,626,439
MIM
616633 OMIM
HGNC
HGNC:29217 HGNC
Ensembl
ENSG00000126464 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 62
Likely pathogenic 0 32
Benign 0 92
Likely benign 0 278
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 366
Ranking
ClinVar
0
0
92
704
16
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 :
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 KIAA1205
SYNONYM NOC
MIM 616633 OMIM
HGNC HGNC:29217 HGNC
Ensembl ENSG00000126464 Ensembl
AllianceGenome HGNC:29217
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000418929.7 hg38 chr19 49,591,182 49,626,439 35,258
ENST00000418929.7 hg19 chr19 50,094,439 50,129,696 35,258
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