Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs189506473

TSHR

rs189506473 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSHR. Location: chromosome 14, position 81,606,063. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

TSHRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:81606063
Cytoband
14q31.1
HGVS
NM_000369.5(TSHR):c.733G>A (p.Gly245Ser)
Allele change
Missense_G245S

Associated conditions / phenotypes

Hypothyroidism due to TSH receptor mutations|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.