GFPT1 Chromosome 2
Glutamine--fructose-6-phosphate transaminase 1
Upload your DNA to see your personal genotypes for variants in GFPT1.
What This Gene Does
This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]
Gene Info
Gene Group
Glutamine--fructose-6-phosphate transaminase family
Locus Type
gene with protein product
Location
2p13.3
Ensembl
ENSG00000198380
Associated Conditions (11)
Congenital myasthenic syndrome
Congenital myasthenic syndrome 12
Congenital myasthenic syndrome 13
Gastric cancer
Congenital myasthenic syndrome 4C
GFPT1-related disorder
Inborn genetic diseases
GFPT1-related myopathy with protein aggregates and rimmed vacuoles
Ovarian serous cystadenocarcinoma
Abnormality of the musculature
GFPT1-related myasthenic syndrome
Key Variants
RS1024585946
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome, Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 13
Health Risk
RS190072721
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Gastric cancer, Congenital myasthenic syndrome 12
Health Risk
RS199678034
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome, Congenital myasthenic syndrome 12
Health Risk
RS200986371
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 4C, GFPT1-related disorder
Health Risk
RS369055649
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
Health Risk
RS372725563
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
Health Risk
RS373488949
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
Health Risk
RS375455794
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
Health Risk
RS530830788
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Inborn genetic diseases, Congenital myasthenic syndrome 12
Health Risk
RS537066687
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
Health Risk
RS753072061
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, GFPT1-related disorder, Congenital myasthenic syndrome 12
Health Risk
RS765856240
Conflicting classifications of pathogenicity
Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1024585946 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome, Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 13 |
| RS190072721 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Gastric cancer, Congenital myasthenic syndrome 12 |
| RS199678034 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome, Congenital myasthenic syndrome 12 |
| RS200986371 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 4C, GFPT1-related disorder |
| RS369055649 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS372725563 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS373488949 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS375455794 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS530830788 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Inborn genetic diseases, Congenital myasthenic syndrome 12 |
| RS537066687 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS753072061 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, GFPT1-related disorder, Congenital myasthenic syndrome 12 |
| RS765856240 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS766450555 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital myasthenic syndrome 12, GFPT1-related myopathy with protein aggregates and rimmed vacuoles |
| RS775399768 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS777508704 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS988021644 | Health Risk | Conflicting classifications of pathogenicity | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1458049542 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1553389102 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1558728601 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1558762013 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1574051096 | Health Risk | Likely pathogenic | — |
| RS1670970306 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome 12, Ovarian serous cystadenocarcinoma, Congenital myasthenic syndrome 12 |
| RS2104617170 | Health Risk | Likely pathogenic | — |
| RS2104648140 | Health Risk | Likely pathogenic | — |
| RS2466152425 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome, Congenital myasthenic syndrome |
| RS767107089 | Health Risk | Likely pathogenic | Congenital myasthenic syndrome, Congenital myasthenic syndrome |
| RS1011196447 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Abnormality of the musculature, GFPT1-related myasthenic syndrome |
| RS1380136176 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1553390600 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1558749457 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1558761046 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1558773839 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1574058076 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1574066341 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1574066599 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1670857628 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1671280764 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1671535986 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS1671813157 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2104617143 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2104635880 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2104639109 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2104647624 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS2466082798 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS375268742 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS377155851 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS751097758 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome, Congenital myasthenic syndrome 12 |
| RS757328377 | Health Risk | Pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12 |
| RS922548333 | Health Risk | Pathogenic | Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 4C |
| RS189717232 | Health Risk | Pathogenic/Likely pathogenic | Congenital myasthenic syndrome 12, Congenital myasthenic syndrome, Congenital myasthenic syndrome 12 |