APRT adenine phosphoribosyltransferase

Information
Symbol
APRT
Type
protein-coding
Description
adenine phosphoribosyltransferase
Entrez Gene ID
353
Genome
hg19
Position
chr16:88,875,747-88,878,336
Genome
hg38
Position
chr16:88,809,339-88,811,928
MIM
102600 OMIM
HGNC
HGNC:626 HGNC
Ensembl
ENSG00000198931 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 104
Likely pathogenic 0 22
Benign 0 28
Likely benign 0 56
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 68
Ranking
ClinVar
0
0
38
152
76
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 AMP
SYNONYM APRTD
MIM 102600 OMIM
HGNC HGNC:626 HGNC
Ensembl ENSG00000198931 Ensembl
AllianceGenome HGNC:626
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000563655.5 hg38 chr16 88,809,472 88,811,920 2,449
ENST00000426324.6 hg38 chr16 88,809,469 88,811,925 2,457
ENST00000378364.8 hg38 chr16 88,809,339 88,811,928 2,590
ENST00000378364.8 hg19 chr16 88,875,747 88,878,336 2,590
ENST00000426324.6 hg19 chr16 88,875,877 88,878,333 2,457
ENST00000563655.5 hg19 chr16 88,875,880 88,878,328 2,449
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