I353T (p.Ile353Thr) variant of THRB (Thyroid hormone receptor beta)
I353T (p.Ile353Thr) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Thyroid hormone resistance, generalized, autosomal dominant. The record also includes structural context.
I353T (p.Ile353Thr) variant details
- p.Ile353Thr
- rs2471728089
- ClinGen CA351888664
- ClinVar RCV004018042
- Pathogenic
- Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- ClinVar: Pathogenic (Thyroid hormone resistance, generalized, autosomal dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available