PHKA1 phosphorylase kinase regulatory subunit alpha 1

Information
Symbol
PHKA1
Type
protein-coding
Description
phosphorylase kinase regulatory subunit alpha 1
Entrez Gene ID
5255
Genome
hg19
Position
chrX:71,798,664-71,934,154
Genome
hg38
Position
chrX:72,578,814-72,714,306
MIM
311870 OMIM
HGNC
HGNC:8925 HGNC
Ensembl
ENSG00000067177 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 18
Benign 0 102
Likely benign 0 342
Conflicting classifications of pathogenicity 0 42
not provided 6 0
Uncertain significance 0 504
Ranking
ClinVar
0
0
174
784
22
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 PHKA
MIM 311870 OMIM
HGNC HGNC:8925 HGNC
Ensembl ENSG00000067177 Ensembl
AllianceGenome HGNC:8925
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000541944.5 hg38 chrX 72,578,815 72,714,181 135,367
ENST00000373539.3 hg38 chrX 72,580,627 72,714,258 133,632
ENST00000339490.7 hg38 chrX 72,578,815 72,714,181 135,367
ENST00000373542.9 hg38 chrX 72,578,814 72,714,306 135,493
ENST00000373545.7 hg38 chrX 72,578,814 72,714,319 135,506
ENST00000373542.9 hg19 chrX 71,798,664 71,934,154 135,491
ENST00000373545.7 hg19 chrX 71,798,664 71,934,167 135,504
ENST00000339490.7 hg19 chrX 71,798,665 71,934,029 135,365
ENST00000541944.5 hg19 chrX 71,798,665 71,934,029 135,365
ENST00000373539.3 hg19 chrX 71,800,477 71,934,106 133,630
Genome browser