PNKP polynucleotide kinase 3'-phosphatase

Information
Symbol
PNKP
Type
protein-coding
Description
polynucleotide kinase 3'-phosphatase
Entrez Gene ID
11284
Genome
hg19
Position
chr19:50,364,461-50,370,833
Genome
hg38
Position
chr19:49,861,204-49,867,576
MIM
605610 OMIM
HGNC
HGNC:9154 HGNC
Ensembl
ENSG00000039650 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 10 144
Likely pathogenic 0 106
Benign 0 104
Likely benign 0 904
Conflicting classifications of pathogenicity 0 144
not provided 0 2
other 2 0
Uncertain significance 0 880
Ranking
ClinVar
0
0
484
1,550
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 AOA4
SYNONYM CMT2B2
SYNONYM EIEE10
SYNONYM MCSZ
SYNONYM PNK
MIM 605610 OMIM
HGNC HGNC:9154 HGNC
Ensembl ENSG00000039650 Ensembl
AllianceGenome HGNC:9154
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000600573.5 hg38 chr19 49,861,240 49,867,576 6,337
ENST00000322344.8 hg38 chr19 49,861,204 49,867,576 6,373
ENST00000600910.5 hg38 chr19 49,861,204 49,867,555 6,352
ENST00000596014.5 hg38 chr19 49,861,231 49,867,286 6,056
ENST00000631020.2 hg38 chr19 49,861,215 49,867,258 6,044
ENST00000596014.5 hg19 chr19 50,364,488 50,370,543 6,056
ENST00000322344.8 hg19 chr19 50,364,461 50,370,833 6,373
ENST00000600910.5 hg19 chr19 50,364,461 50,370,812 6,352
ENST00000631020.2 hg19 chr19 50,364,472 50,370,515 6,044
ENST00000600573.5 hg19 chr19 50,364,497 50,370,833 6,337
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