V349M (p.Val349Met) variant of THRB (Thyroid hormone receptor beta)
V349M (p.Val349Met) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Thyroid hormone resistance, generalized, autosomal dominant. The record also includes structural context.
V349M (p.Val349Met) variant details
- p.Val349Met
- rs2471728666
- ClinGen CA351888695
- ClinVar RCV003477385
- ClinVar RCV004783068
- Likely pathogenic
- not provided; Thyroid hormone resistance, generalized, autosomal dominant
- Missense
- ClinVar: Likely pathogenic (not provided; Thyroid hormone resistance, generalized, autosomal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available