Variant (rsID / SNP)

rs139607138

rs139607138 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UMOD. Location: chromosome 16, position 20,352,615. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

UMODConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:20352615
Cytoband: 16p12.3
HGVS: NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp)
Allele change: Missense_R459W

Associated conditions / phenotypes

Familial juvenile hyperuricemic nephropathy 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.