PSAT1 phosphoserine aminotransferase 1

Information
Symbol
PSAT1
Type
protein-coding
Description
phosphoserine aminotransferase 1
Entrez Gene ID
29968
Genome
hg19
Position
chr9:80,912,041-80,945,009
Genome
hg38
Position
chr9:78,297,125-78,330,093
MIM
610936 OMIM
HGNC
HGNC:19129 HGNC
Ensembl
ENSG00000135069 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 46
Likely pathogenic 0 24
Benign 0 82
Likely benign 0 226
Conflicting classifications of pathogenicity 0 22
not provided 0 288
Uncertain significance 0 284
Ranking
ClinVar
0
0
62
574
14
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 :
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 EPIP
SYNONYM NLS2
SYNONYM PSA
SYNONYM PSAT
SYNONYM PSATD
MIM 610936 OMIM
HGNC HGNC:19129 HGNC
Ensembl ENSG00000135069 Ensembl
AllianceGenome HGNC:19129
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000376588.4 hg38 chr9 78,297,125 78,330,093 32,969
ENST00000347159.6 hg38 chr9 78,297,143 78,329,454 32,312
ENST00000376588.4 hg19 chr9 80,912,041 80,945,009 32,969
ENST00000347159.6 hg19 chr9 80,912,059 80,944,370 32,312
Genome browser