Variant (rsID / SNP)

rs147257284

rs147257284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to QDPR. Location: chromosome 4, position 17,506,026. Clinical significance in the table: Uncertain significance.

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Reference-table entries

QDPRUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:17506026
Cytoband: 4p15.32
HGVS: NM_000320.3(QDPR):c.271G>T (p.Ala91Ser)
Allele change: Silent

Associated conditions / phenotypes

Dihydropteridine reductase 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.