Variant (rsID / SNP)

rs2234919

rs2234919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSHR. Location: chromosome 14, position 81,422,178. Clinical significance in the table: Benign.

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Reference-table entries

TSHRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:81422178
Cytoband: 14q31.1
HGVS: NM_000369.5(TSHR):c.154C>A (p.Pro52Thr)
Allele change: Missense_P52T

Associated conditions / phenotypes

Hypothyroidism due to TSH receptor mutations|Familial hyperthyroidism due to mutations in TSH receptor|Familial gestational hyperthyroidism

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.