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Variant (rsID / SNP)

rs114096998

DPYD

rs114096998 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 97,544,543. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DPYDConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:97544543
Cytoband
1p21.3
HGVS
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr)
Allele change
Missense_P1023T

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.