Variant (rsID / SNP)
rs111033690
rs111033690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,647,855. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GALTPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:34647855
- Cytoband
- 9p13.3
- HGVS
- NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
- Allele change
- Missense_S26L
Associated conditions / phenotypes
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.