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Variant (rsID / SNP)

rs28999969

THRB

rs28999969 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to THRB. Location: chromosome 3, position 24,169,140. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

THRBConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:24169140
Cytoband
3p24.2
HGVS
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg)
Allele change
Missense_G332R

Associated conditions / phenotypes

Thyroid hormone resistance, generalized, autosomal dominant

Public references

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