Variant (rsID / SNP)

rs121912648

rs121912648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TG. Location: chromosome 8, position 133,894,854. Clinical significance in the table: Pathogenic.

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Reference-table entries

TGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:133894854
Cytoband: 8q24.22
HGVS: NM_003235.5(TG):c.886C>T (p.Arg296Ter)
Allele change: Nonsense_R296X

Associated conditions / phenotypes

Iodotyrosyl coupling defect|Congenital 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.