Variant (rsID / SNP)

rs56378716

rs56378716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPO. Location: chromosome 17, position 56,356,502. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MPOUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:56356502
Cytoband: 17q22
HGVS: NM_000250.2(MPO):c.752T>C (p.Met251Thr)
Allele change: Missense_M251T

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.