Variant (rsID / SNP)

rs78950939

rs78950939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPO. Location: chromosome 17, position 56,356,914. Clinical significance in the table: Pathogenic.

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Reference-table entries

MPOPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:56356914
Cytoband: 17q22
HGVS: NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)
Allele change: Missense_Y173C

Associated conditions / phenotypes

Myeloperoxidase deficiency

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.