Variant (rsID / SNP)

rs13335818

rs13335818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UMOD. Location: chromosome 16, position 20,359,831. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

UMODBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:20359831
Cytoband: 16p12.3
HGVS: NM_003361.4(UMOD):c.792G>A (p.Val264=)
Allele change: Synonymous_V264V

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.