GALT Chromosome 9

Galactose-1-phosphate uridylyltransferase
296 variants 296 Health Risk

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What This Gene Does
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Histidine triad superfamily
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000213930
Associated Conditions (26)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
GALT-related disorder
Premature ovarian failure
Gastric cancer
Acute myeloid leukemia
Uveal melanoma
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Colorectal cancer
Malignant tumor of esophagus
Cervical cancer
Familial cancer of breast
Sarcoma
Melanoma
Thymoma
Glioma susceptibility 1
Classical galactosemia
+6 more conditions
Key Variants
RS1034185619
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS1057523885
Conflicting classifications of pathogenicity
Health Risk
RS1057524572
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033645
Conflicting classifications of pathogenicity
Health Risk
RS111033663
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033665
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033682
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033686
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Galactosemia
Health Risk
RS111033692
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033711
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT-related disorder, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033716
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
Health Risk
RS111033722
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
All Variants (296)
RSID Category Clinical Significance Conditions
RS1034185619 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1057523885 Health Risk Conflicting classifications of pathogenicity —
RS1057524572 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033645 Health Risk Conflicting classifications of pathogenicity —
RS111033663 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033665 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033682 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033686 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Galactosemia
RS111033692 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033711 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT-related disorder, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033716 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS111033722 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033734 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033736 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033750 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Premature ovarian failure
RS111033755 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033765 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033772 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033779 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033795 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033810 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS111033831 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1131691837 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS117998880 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1300102277 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT-related disorder, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS141232328 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS143994870 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1483461355 Health Risk Conflicting classifications of pathogenicity —
RS151309174 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Gastric cancer, Acute myeloid leukemia
RS1821203474 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS193922247 Health Risk Conflicting classifications of pathogenicity Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS193922248 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS199572263 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132341621 Health Risk Conflicting classifications of pathogenicity —
RS2132344172 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2277202 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492861943 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492872734 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2492881242 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS367543260 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS368298966 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS374014228 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS3824553 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS41274865 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS41274867 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS61735983 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Inborn genetic diseases
RS61735984 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS727503947 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS751084584 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS75391579 Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Inborn genetic diseases
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