D322N (p.Asp322Asn) variant of THRB (Thyroid hormone receptor beta)
D322N (p.Asp322Asn) in THRB (Thyroid hormone receptor beta) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hyperthyroidism. The record also includes structural context.
D322N (p.Asp322Asn) variant details
- p.Asp322Asn
- cosmic curated COSV54979
- Likely pathogenic
- Hyperthyroidism
- Missense
- ClinVar: Likely pathogenic (Hyperthyroidism)
- UniProt: Likely pathogenic
- Structural context available