Variant (rsID / SNP)

rs121908087

rs121908087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPO. Location: chromosome 2, position 1,499,831. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TPOPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:1499831
Cytoband: 2p25.3
HGVS: NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp)
Allele change: Missense_R693W

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.