PHKA2 phosphorylase kinase regulatory subunit alpha 2

Information
Symbol
PHKA2
Type
protein-coding
Description
phosphorylase kinase regulatory subunit alpha 2
Entrez Gene ID
5256
Genome
hg19
Position
chrX:18,910,416-19,002,232
Genome
hg38
Position
chrX:18,892,298-18,984,114
MIM
300798 OMIM
HGNC
HGNC:8926 HGNC
Ensembl
ENSG00000044446 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 18 112
Likely pathogenic 1 92
Benign 0 122
Likely benign 0 314
Conflicting classifications of pathogenicity 0 36
not provided 7 0
Uncertain significance 0 326
Ranking
ClinVar
0
0
174
692
40
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 :
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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 GSD9A
SYNONYM PHK
SYNONYM PYK
SYNONYM PYKL
SYNONYM XLG
SYNONYM XLG2
MIM 300798 OMIM
HGNC HGNC:8926 HGNC
Ensembl ENSG00000044446 Ensembl
AllianceGenome HGNC:8926
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379942.5 hg38 chrX 18,892,298 18,984,114 91,817
ENST00000379942.5 hg19 chrX 18,910,416 19,002,232 91,817
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