QPRT quinolinate phosphoribosyltransferase

Information
Symbol
QPRT
Type
protein-coding
Description
quinolinate phosphoribosyltransferase
Entrez Gene ID
23475
Genome
hg19
Position
chr16:29,690,501-29,710,020
Genome
hg38
Position
chr16:29,679,180-29,698,699
MIM
606248 OMIM
HGNC
HGNC:9755 HGNC
Ensembl
ENSG00000103485 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 14
Likely benign 0 18
not provided 9 0
Uncertain significance 0 74
Ranking
ClinVar
0
0
6
100
0
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 HEL-S-90n
SYNONYM QPRTase
MIM 606248 OMIM
HGNC HGNC:9755 HGNC
Ensembl ENSG00000103485 Ensembl
AllianceGenome HGNC:9755
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000562473.1 hg38 chr16 29,679,182 29,697,524 18,343
ENST00000449759.2 hg38 chr16 29,663,279 29,697,638 34,360
ENST00000395384.9 hg38 chr16 29,679,180 29,698,699 19,520
ENST00000449759.2 hg19 chr16 29,674,600 29,708,959 34,360
ENST00000395384.9 hg19 chr16 29,690,501 29,710,020 19,520
ENST00000562473.1 hg19 chr16 29,690,503 29,708,845 18,343
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