Variant (rsID / SNP)

rs190110651

rs190110651 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TSHB. Location: chromosome 1, position 115,576,687. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TSHBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:115576687
Cytoband: 1p13.2
HGVS: NM_000549.5(TSHB):c.256G>A (p.Gly86Arg)
Allele change: Missense_G86R

Associated conditions / phenotypes

Secondary hypothyroidism

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.