Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs150602845

TSHR

rs150602845 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSHR. Location: chromosome 14, position 81,610,002. 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
14:81610002
Cytoband
14q31.1
HGVS
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys)
Allele change
Missense_R534C

Associated conditions / phenotypes

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

Public references

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