Variant (rsID / SNP)
rs111033738
rs111033738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,648,362. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GALTPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 9:34648362
- Cytoband
- 9p13.3
- HGVS
- NM_000155.4(GALT):c.598del (p.Gln200fs)
Associated conditions / phenotypes
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase|Galactosemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.