Variant (rsID / SNP)
rs72547602
rs72547602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 97,544,689. Clinical significance in the table: Pathogenic.
Reference-table entries
DPYDPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:97544689
- Cytoband
- 1p21.3
- HGVS
- NM_000110.4(DPYD):c.2921A>T (p.Asp974Val)
- Allele change
- Missense_D974V
Associated conditions / phenotypes
Fluorouracil response
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.