Variant (rsID / SNP)

rs2291078

rs2291078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UMPS. Location: chromosome 3, position 124,458,938. Clinical significance in the table: Benign.

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Reference-table entries

UMPSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:124458938
Cytoband: 3q21.2
HGVS: NM_000373.4(UMPS):c.1050T>A (p.Val350=)
Allele change: Silent

Associated conditions / phenotypes

Orotic aciduria|Hereditary orotic aciduria, type 1

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.