Variant (rsID / SNP)

rs121918325

rs121918325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPOX. Location: chromosome 1, position 161,138,252. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PPOXPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:161138252
Cytoband: 1q23.3
HGVS: NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)
Allele change: Missense_R168C

Associated conditions / phenotypes

Variegate 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.