AGXT alanine--glyoxylate aminotransferase

Information
Symbol
AGXT
Type
protein-coding
Description
alanine--glyoxylate aminotransferase
Entrez Gene ID
189
Genome
hg19
Position
chr2:241,808,241-241,819,917
Genome
hg38
Position
chr2:240,868,824-240,880,500
MIM
604285 OMIM
HGNC
HGNC:341 HGNC
Ensembl
ENSG00000172482 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 428
Likely pathogenic 0 306
Benign 0 110
Likely benign 0 752
Conflicting classifications of pathogenicity 0 80
no classification for the single variant 0 6
Uncertain significance 0 188
Ranking
ClinVar
0
0
292
1,196
158
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 AGT
SYNONYM AGT1
SYNONYM AGXT1
SYNONYM PH1
SYNONYM SPAT
SYNONYM SPT
SYNONYM Ser-PyrAT
SYNONYM TLH6
MIM 604285 OMIM
HGNC HGNC:341 HGNC
Ensembl ENSG00000172482 Ensembl
AllianceGenome HGNC:341
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000307503.4 hg38 chr2 240,868,824 240,880,500 11,677
ENST00000307503.4 hg19 chr2 241,808,241 241,819,917 11,677
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