Variant (rsID / SNP)
rs193922250
rs193922250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GALT. Location: chromosome 9, position 34,648,454. Clinical significance in the table: Likely pathogenic.
Reference-table entries
GALTLikely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:34648454
- Cytoband
- 9p13.3
- HGVS
- NM_000155.4(GALT):c.687+1G>T
- Allele change
- Silent
Associated conditions / phenotypes
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.