Variant (rsID / SNP)

rs121908865

rs121908865 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSHR. Location: chromosome 14, position 81,554,306. Clinical significance in the table: Pathogenic.

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Reference-table entries

TSHRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:81554306
Cytoband: 14q31.1
HGVS: NM_000369.5(TSHR):c.326G>A (p.Arg109Gln)
Allele change: Missense_R109Q

Associated conditions / phenotypes

Hypothyroidism due to TSH receptor mutations

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.