PKLR pyruvate kinase L/R

Information
Symbol
PKLR
Type
protein-coding
Description
pyruvate kinase L/R
Entrez Gene ID
5313
Genome
hg19
Position
chr1:155,259,084-155,271,229
Genome
hg38
Position
chr1:155,289,293-155,301,438
MIM
609712 OMIM
HGNC
HGNC:9020 HGNC
Ensembl
ENSG00000143627 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 16 92
Likely pathogenic 0 100
Benign 0 22
Likely benign 0 44
Conflicting classifications of pathogenicity 0 70
Uncertain significance 0 308
Ranking
ClinVar
0
0
122
404
12
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 PK1
SYNONYM PKL
SYNONYM PKRL
SYNONYM RPK
MIM 609712 OMIM
HGNC HGNC:9020 HGNC
Ensembl ENSG00000143627 Ensembl
AllianceGenome HGNC:9020
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342741.6 hg38 chr1 155,289,293 155,301,438 12,146
ENST00000392414.7 hg38 chr1 155,289,839 155,301,001 11,163
ENST00000342741.6 hg19 chr1 155,259,084 155,271,229 12,146
ENST00000392414.7 hg19 chr1 155,259,630 155,270,792 11,163
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