PYGM glycogen phosphorylase, muscle associated

Information
Symbol
PYGM
Type
protein-coding
Description
glycogen phosphorylase, muscle associated
Entrez Gene ID
5837
Genome
hg19
Position
chr11:64,513,870-64,527,446
Genome
hg38
Position
chr11:64,746,398-64,759,974
MIM
608455 OMIM
HGNC
HGNC:9726 HGNC
Ensembl
ENSG00000068976 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 292
Likely pathogenic 0 272
Benign 0 82
Likely benign 0 1,308
Conflicting classifications of pathogenicity 0 166
not provided 0 4
Uncertain significance 0 584
Ranking
ClinVar
0
0
490
1,882
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 :
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 GSD5
MIM 608455 OMIM
HGNC HGNC:9726 HGNC
Ensembl ENSG00000068976 Ensembl
AllianceGenome HGNC:9726
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000164139.4 hg38 chr11 64,746,398 64,759,974 13,577
ENST00000377432.7 hg38 chr11 64,746,389 64,759,974 13,586
ENST00000377432.7 hg19 chr11 64,513,861 64,527,446 13,586
ENST00000164139.4 hg19 chr11 64,513,870 64,527,446 13,577
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