PANK2 pantothenate kinase 2

Information
Symbol
PANK2
Type
protein-coding
Description
pantothenate kinase 2
Entrez Gene ID
80025
Genome
hg19
Position
chr20:3,869,570-3,910,534
Genome
hg38
Position
chr20:3,888,923-3,929,887
MIM
606157 OMIM
HGNC
HGNC:15894 HGNC
Ensembl
ENSG00000125779 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 160
Likely pathogenic 0 78
Benign 0 76
Likely benign 0 600
Conflicting classifications of pathogenicity 0 80
Uncertain significance 0 410
Ranking
ClinVar
0
0
162
1,098
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 C20orf48
SYNONYM HARP
SYNONYM HSS
SYNONYM NBIA1
SYNONYM PKAN
MIM 606157 OMIM
HGNC HGNC:15894 HGNC
Ensembl ENSG00000125779 Ensembl
AllianceGenome HGNC:15894
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000316562.9 hg38 chr20 3,888,923 3,929,887 40,965
ENST00000497424.5 hg38 chr20 3,888,839 3,926,958 38,120
ENST00000610179.7 hg38 chr20 3,889,387 3,929,887 40,501
ENST00000621507.1 hg38 chr20 3,889,816 3,923,855 34,040
ENST00000497424.5 hg19 chr20 3,869,486 3,907,605 38,120
ENST00000316562.9 hg19 chr20 3,869,570 3,910,534 40,965
ENST00000610179.7 hg19 chr20 3,870,034 3,910,534 40,501
ENST00000621507.1 hg19 chr20 3,870,463 3,904,502 34,040
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