Variant (rsID / SNP)

rs72549310

rs72549310 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYD. Location: chromosome 1, position 98,348,909. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DPYDLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:98348909
Cytoband: 1p21.3
HGVS: NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)
Allele change: Nonsense_R21X

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.