NM_001206744.2(TPO):c.2538G>C (p.Arg846=) AND Deficiency of iodide peroxidase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000276405.5
Allele description [Variation Report for NM_001206744.2(TPO):c.2538G>C (p.Arg846=)]
NM_001206744.2(TPO):c.2538G>C (p.Arg846=)
Condition(s)
- Name:
- Deficiency of iodide peroxidase (TDH2A)
- Synonyms:
- HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A; IODIDE PEROXIDASE DEFICIENCY; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010133; MedGen: C1291299; Orphanet: 95716; OMIM: 274500
Assertion and evidence details
Last Updated: Feb 20, 2024