Variant (rsID / SNP)

rs28941775

rs28941775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UROS. Location: chromosome 10, position 127,503,663. Clinical significance in the table: Pathogenic.

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Reference-table entries

UROSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:127503663
Cytoband: 10q26.2
HGVS: NM_000375.3(UROS):c.184A>G (p.Thr62Ala)
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.