Variant (rsID / SNP)
rs121918669
rs121918669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSHB. Location: chromosome 1, position 115,576,077. Clinical significance in the table: Pathogenic.
Reference-table entries
TSHBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:115576077
- Cytoband
- 1p13.2
- HGVS
- NM_000549.5(TSHB):c.94G>T (p.Glu32Ter)
- Allele change
- Nonsense_E32X
Associated conditions / phenotypes
Secondary hypothyroidism
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.