PRNP prion protein (Kanno blood group)

Information
Symbol
PRNP
Type
protein-coding
Description
prion protein (Kanno blood group)
Entrez Gene ID
5621
Genome
hg19
Position
chr20:4,667,189-4,682,236
Genome
hg38
Position
chr20:4,686,543-4,701,590
MIM
176640 OMIM
HGNC
HGNC:9449 HGNC
Ensembl
ENSG00000171867 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 38
Likely pathogenic 2 20
Benign 6 56
Likely benign 0 72
Conflicting classifications of pathogenicity 0 8
low penetrance 0 4
protective 0 2
Uncertain significance 2 136
Ranking
ClinVar
0
0
80
200
18
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 ASCR
SYNONYM AltPrP
SYNONYM CD230
SYNONYM CJD
SYNONYM GSS
SYNONYM KURU
SYNONYM PRIP
SYNONYM PrP
SYNONYM PrP27-30
SYNONYM PrP33-35C
SYNONYM PrPc
SYNONYM p27-30
MIM 176640 OMIM
HGNC HGNC:9449 HGNC
Ensembl ENSG00000171867 Ensembl
AllianceGenome HGNC:9449
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000430350.2 hg38 chr20 4,686,350 4,701,590 15,241
ENST00000457586.2 hg38 chr20 4,686,543 4,701,590 15,048
ENST00000379440.9 hg38 chr20 4,686,456 4,701,588 15,133
ENST00000424424.2 hg38 chr20 4,686,459 4,701,590 15,132
ENST00000430350.2 hg19 chr20 4,666,996 4,682,236 15,241
ENST00000379440.9 hg19 chr20 4,667,102 4,682,234 15,133
ENST00000424424.2 hg19 chr20 4,667,105 4,682,236 15,132
ENST00000457586.2 hg19 chr20 4,667,189 4,682,236 15,048
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