Gene entry
GALT
galactose-1-phosphate uridylyltransferase
- Chromosome
- 9
- Cytoband
- 9p13.3
- Variants (rsID)
- 54
GALT is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9p13.3). Its official name is “galactose-1-phosphate uridylyltransferase”. The reference table lists 54 variants (rsID) for this gene.
Clinically classified variants
53 reference-table entries with clinical significance.
- rs2070075Benignsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033652Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033665Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033765Conflicting interpretationssingle nucleotide variant
- rs111033772Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033795Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033831Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033836Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs193922247Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs2070074Conflicting interpretationssingle nucleotide variantGALT POLYMORPHISM (DUARTE, D2)|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs367543266Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs368166217Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs61735984Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs75391579Conflicting interpretationssingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia|See cases
- rs886042064Conflicting interpretationssingle nucleotide variant
- rs111033750Likely pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs193922250Likely pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033658Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033661Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033666Pathogenicsingle nucleotide variant
- rs111033667Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033669Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033686Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033690Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia|See cases
- rs111033693Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033694Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033695Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033715Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033725Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033728Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033735Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033737Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033738PathogenicDeletionDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033739Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033744Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033746Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033749Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033768Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033773Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033790Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033792Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033800Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033802Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033809Pathogenicsingle nucleotide variant
- rs111033811Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
- rs111033814Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033818Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs367543256Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs367543268Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs367543271Pathogenicsingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- rs111033645Uncertain significancesingle nucleotide variant
- rs111033844Uncertain significancesingle nucleotide variant
- rs367543255Uncertain significancesingle nucleotide variantDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.