Variant (rsID / SNP)

rs121908088

rs121908088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPO. Location: chromosome 2, position 1,497,783. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TPOPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:1497783
Cytoband: 2p25.3
HGVS: NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)
Allele change: Missense_Q660E

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.