Variant (rsID / SNP)

rs121908869

rs121908869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSHR. Location: chromosome 14, position 81,422,146. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

TSHRPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:81422146
Cytoband: 14q31.1
HGVS: NM_000369.5(TSHR):c.122G>C (p.Cys41Ser)
Allele change: Missense_C41S

Associated conditions / phenotypes

Hypothyroidism due to TSH receptor mutations|autistic features|Developmental delay|Epilepsy|Familial hyperthyroidism due to mutations in TSH receptor

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.