GFPT1 glutamine--fructose-6-phosphate transaminase 1

Information
Symbol
GFPT1
Type
protein-coding
Description
glutamine--fructose-6-phosphate transaminase 1
Entrez Gene ID
2673
Genome
hg19
Position
chr2:69,546,912-69,614,359
Genome
hg38
Position
chr2:69,319,780-69,387,227
MIM
138292 OMIM
HGNC
HGNC:4241 HGNC
Ensembl
ENSG00000198380 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 50
Likely pathogenic 2 26
Benign 0 140
Likely benign 0 354
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 492
Ranking
ClinVar
0
0
76
952
18
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 :
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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 CMS12
SYNONYM CMSTA1
SYNONYM GFA
SYNONYM GFAT
SYNONYM GFAT 1
SYNONYM GFAT1
SYNONYM GFAT1m
SYNONYM GFPT
SYNONYM GFPT1L
SYNONYM MSLG
MIM 138292 OMIM
HGNC HGNC:4241 HGNC
Ensembl ENSG00000198380 Ensembl
AllianceGenome HGNC:4241
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000674507.1 hg38 chr2 69,322,278 69,387,188 64,911
ENST00000674438.1 hg38 chr2 69,325,423 69,387,130 61,708
ENST00000361060.5 hg38 chr2 69,319,780 69,387,248 67,469
ENST00000357308.9 hg38 chr2 69,319,780 69,387,227 67,448
ENST00000357308.9 hg19 chr2 69,546,912 69,614,359 67,448
ENST00000361060.5 hg19 chr2 69,546,912 69,614,380 67,469
ENST00000674507.1 hg19 chr2 69,549,410 69,614,320 64,911
ENST00000674438.1 hg19 chr2 69,552,555 69,614,262 61,708
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