Variant (rsID / SNP)

rs28730837

rs28730837 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPO. Location: chromosome 17, position 56,355,397. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MPOConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:56355397
Cytoband: 17q22
HGVS: NM_000250.2(MPO):c.995C>T (p.Ala332Val)
Allele change: Missense_A332V

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.