Variant (rsID / SNP)

rs111033693

rs111033693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,647,893. Clinical significance in the table: Pathogenic.

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Reference-table entries

GALTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:34647893
Cytoband: 9p13.3
HGVS: NM_000155.4(GALT):c.442C>T (p.Arg148Trp)
Allele change: Missense_R39W

Associated conditions / phenotypes

Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.