Variant (rsID / SNP)

rs28933408

rs28933408 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to THRB. Location: chromosome 3, position 24,164,404. Clinical significance in the table: Pathogenic.

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Reference-table entries

THRBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:24164404
Cytoband: 3p24.2
HGVS: NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr)
Allele change: Missense_P453T

Associated conditions / phenotypes

Thyroid hormone resistance, generalized, autosomal dominant

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.