Variant (rsID / SNP)
rs72549304
rs72549304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 98,015,165. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
DPYDConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:98015165
- Cytoband
- 1p21.3
- HGVS
- NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
- Allele change
- Missense_S492L
Associated conditions / phenotypes
Dihydropyrimidine dehydrogenase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.