PGM2L1 phosphoglucomutase 2 like 1

Information
Symbol
PGM2L1
Type
protein-coding
Description
phosphoglucomutase 2 like 1
Entrez Gene ID
283209
Genome
hg19
Position
chr11:74,041,361-74,109,478
Genome
hg38
Position
chr11:74,330,316-74,398,433
MIM
611610 OMIM
HGNC
HGNC:20898 HGNC
Ensembl
ENSG00000165434 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Benign 0 36
Likely benign 0 4
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
84
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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 BM32A
SYNONYM NEDHFS
SYNONYM PMMLP
MIM 611610 OMIM
HGNC HGNC:20898 HGNC
Ensembl ENSG00000165434 Ensembl
AllianceGenome HGNC:20898
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000298198.5 hg38 chr11 74,330,316 74,398,433 68,118
ENST00000298198.5 hg19 chr11 74,041,361 74,109,478 68,118
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