Variant (rsID / SNP)

rs121964923

rs121964923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPYS. Location: chromosome 8, position 105,440,299. Clinical significance in the table: Pathogenic.

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Reference-table entries

DPYSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:105440299
Cytoband: 8q22.3
HGVS: NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg)
Allele change: Missense_Q334R

Associated conditions / phenotypes

Dihydropyrimidinase 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.