Variant (rsID / SNP)

rs547099198

rs547099198 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 97,700,472. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DPYDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:97700472
Cytoband: 1p21.3
HGVS: NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile)
Allele change: Missense_T793I

Associated conditions / phenotypes

Dihydropyrimidine dehydrogenase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.