Variant (rsID / SNP)

rs121908020

rs121908020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROS. Location: chromosome 10, position 127,477,562. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

UROSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:127477562
Cytoband: 10q26.2
HGVS: NM_000375.3(UROS):c.673G>A (p.Gly225Ser)
Allele change: Silent

Associated conditions / phenotypes

Cutaneous porphyria

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.