NM_000453.3(SLC5A5):c.296T>C (p.Val99Ala) AND Familial thyroid dyshormonogenesis 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001126608.4
Allele description [Variation Report for NM_000453.3(SLC5A5):c.296T>C (p.Val99Ala)]
NM_000453.3(SLC5A5):c.296T>C (p.Val99Ala)
Condition(s)
- Name:
- Familial thyroid dyshormonogenesis 1
- Synonyms:
- HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1; IODINE ACCUMULATION, TRANSPORT, OR TRAPPING DEFECT; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0020716; MedGen: C1848805; Orphanet: 95716; OMIM: 274400
Assertion and evidence details
Last Updated: Apr 9, 2023