PFAS phosphoribosylformylglycinamidine synthase

Information
Symbol
PFAS
Type
protein-coding
Description
phosphoribosylformylglycinamidine synthase
Entrez Gene ID
5198
Genome
hg19
Position
chr17:8,152,607-8,173,804
Genome
hg38
Position
chr17:8,249,289-8,270,486
MIM
602133 OMIM
HGNC
HGNC:8863 HGNC
Ensembl
ENSG00000178921 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 16
not provided 1 0
Uncertain significance 0 134
Ranking
ClinVar
0
0
0
158
0
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 FGAMS
SYNONYM FGAR-AT
SYNONYM FGARAT
SYNONYM GATD8
SYNONYM PURL
MIM 602133 OMIM
HGNC HGNC:8863 HGNC
Ensembl ENSG00000178921 Ensembl
AllianceGenome HGNC:8863
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000625942.1 hg38 chr17 8,253,938 8,255,816 1,879
ENST00000314666.11 hg38 chr17 8,249,289 8,270,486 21,198
ENST00000314666.11 hg19 chr17 8,152,607 8,173,804 21,198
ENST00000625942.1 hg19 chr17 8,157,256 8,159,134 1,879
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