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Variant (rsID / SNP)

rs201165648

TPO

rs201165648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPO. Location: chromosome 2, position 1,488,501. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TPOConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:1488501
Cytoband
2p25.3
HGVS
NM_001206744.2(TPO):c.1472G>A (p.Arg491His)
Allele change
Missense_R491H

Associated conditions / phenotypes

Deficiency of iodide peroxidase

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.