NM_001354712.2(THRB):c.1020G>C (p.Gln340His) AND Thyroid hormone resistance, generalized, autosomal dominant
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 1, 1994
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000013363.23
Allele description [Variation Report for NM_001354712.2(THRB):c.1020G>C (p.Gln340His)]
NM_001354712.2(THRB):c.1020G>C (p.Gln340His)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023