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Variant (rsID / SNP)

rs181461079

DUOX2

rs181461079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DUOX2. Location: chromosome 15, position 45,396,158. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DUOX2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:45396158
Cytoband
15q21.1
HGVS
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu)
Allele change
Missense_R885L

Associated conditions / phenotypes

Nongoitrous Euthyroid Hyperthyrotropinemia|Thyroid dyshormonogenesis 6

Public references

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