Variant (rsID / SNP)

rs748639205

rs748639205 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 97,547,971. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DPYDUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:97547971
Cytoband: 1p21.3
HGVS: NM_000110.4(DPYD):c.2822T>C (p.Val941Ala)
Allele change: Missense_V941A

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.