Variant (rsID / SNP)
rs777425216
rs777425216 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 97,981,371. 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
- 1:97981371
- Cytoband
- 1p21.3
- HGVS
- NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)
- Allele change
- Missense_A551S
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.