Variant (rsID / SNP)

rs55772253

rs55772253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UMOD. Location: chromosome 16, position 20,352,618. 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: 16:20352618
Cytoband: 16p12.3
HGVS: NM_003361.4(UMOD):c.1372G>T (p.Val458Leu)
Allele change: Missense_V458L

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.