Variant (rsID / SNP)

rs121908085

rs121908085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPO. Location: chromosome 2, position 1,507,728. Clinical significance in the table: Pathogenic.

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Reference-table entries

TPOPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:1507728
Cytoband: 2p25.3
HGVS: NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys)
Allele change: Missense_E799K

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.