GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

Information
Symbol
GART
Type
protein-coding
Description
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
Entrez Gene ID
2618
Genome
hg19
Position
chr21:34,876,238-34,915,148
Genome
hg38
Position
chr21:33,503,931-33,542,842
MIM
138440 OMIM
HGNC
HGNC:4163 HGNC
Ensembl
ENSG00000159131 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Likely benign 0 4
Uncertain significance 0 78
Ranking
ClinVar
0
0
0
82
2
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 AIRS
SYNONYM GARS
SYNONYM GARTF
SYNONYM PAIS
SYNONYM PGFT
SYNONYM PRGS
MIM 138440 OMIM
HGNC HGNC:4163 HGNC
Ensembl ENSG00000159131 Ensembl
AllianceGenome HGNC:4163
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381839.7 hg38 chr21 33,503,931 33,542,861 38,931
ENST00000381831.7 hg38 chr21 33,503,931 33,542,842 38,912
ENST00000361093.9 hg38 chr21 33,524,009 33,542,114 18,106
ENST00000381815.9 hg38 chr21 33,503,933 33,542,117 38,185
ENST00000381831.7 hg19 chr21 34,876,238 34,915,148 38,911
ENST00000381839.7 hg19 chr21 34,876,238 34,915,167 38,930
ENST00000361093.9 hg19 chr21 34,896,316 34,914,420 18,105
ENST00000381815.9 hg19 chr21 34,876,240 34,914,423 38,184
Genome browser