Variant (rsID / SNP)

rs121917890

rs121917890 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UMPS. Location: chromosome 3, position 124,454,069. Clinical significance in the table: Likely benign.

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Reference-table entries

UMPSLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:124454069
Cytoband: 3q21.2
HGVS: NM_000373.4(UMPS):c.286A>G (p.Arg96Gly)
Allele change: Silent

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.