PTS 6-pyruvoyltetrahydropterin synthase

Information
Symbol
PTS
Type
protein-coding
Description
6-pyruvoyltetrahydropterin synthase
Entrez Gene ID
5805
Genome
hg19
Position
chr11:112,097,151-112,104,696
Genome
hg38
Position
chr11:112,226,428-112,233,973
MIM
612719 OMIM
HGNC
HGNC:9689 HGNC
Ensembl
ENSG00000150787 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 98
Likely pathogenic 0 92
Benign 0 30
Likely benign 0 268
Conflicting classifications of pathogenicity 0 46
Uncertain significance 0 90
Ranking
ClinVar
0
0
92
428
16
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 :
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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 PTPS
MIM 612719 OMIM
HGNC HGNC:9689 HGNC
Ensembl ENSG00000150787 Ensembl
AllianceGenome HGNC:9689
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000280362.8 hg38 chr11 112,226,428 112,233,973 7,546
ENST00000524931.1 hg38 chr11 112,228,273 112,233,810 5,538
ENST00000525803.1 hg38 chr11 112,226,432 112,233,810 7,379
ENST00000280362.8 hg19 chr11 112,097,151 112,104,696 7,546
ENST00000525803.1 hg19 chr11 112,097,155 112,104,533 7,379
ENST00000524931.1 hg19 chr11 112,098,996 112,104,533 5,538
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