NM_001354712.2(THRB):c.1030G>A (p.Gly344Arg) AND THRB-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003400020.4
Allele description [Variation Report for NM_001354712.2(THRB):c.1030G>A (p.Gly344Arg)]
NM_001354712.2(THRB):c.1030G>A (p.Gly344Arg)
Condition(s)
- Name:
- THRB-related disorder
- Synonyms:
- THRB-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024