Variant (rsID / SNP)

rs28991292

rs28991292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPO. Location: chromosome 2, position 1,500,393. 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: 2:1500393
Cytoband: 2p25.3
HGVS: NM_001206744.2(TPO):c.2242G>A (p.Val748Met)
Allele change: Missense_V748M

Associated conditions / phenotypes

Deficiency of iodide peroxidase

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.