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Variant (rsID / SNP)

rs189261858

TSHR

rs189261858 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSHR. Location: chromosome 14, position 81,609,751. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TSHRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:81609751
Cytoband
14q31.1
HGVS
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)
Allele change
Missense_R450H

Associated conditions / phenotypes

Hypothyroidism due to TSH receptor mutations|Congenital hypothyroidism|Familial hyperthyroidism due to mutations in TSH receptor

Public references

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