NM_000369.5(TSHR):c.190C>T (p.Leu64=) AND Hypothyroidism due to TSH receptor mutations
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001119679.4
Allele description [Variation Report for NM_000369.5(TSHR):c.190C>T (p.Leu64=)]
NM_000369.5(TSHR):c.190C>T (p.Leu64=)
Condition(s)
- Name:
- Hypothyroidism due to TSH receptor mutations
- Synonyms:
- HYPOTHYROIDISM DUE TO UNRESPONSIVENESS TO THYROTROPIN; HYPOTHYROIDISM, CONGENITAL, DUE TO TSH RESISTANCE; HYPOTHYROIDISM, NONAUTOIMMUNE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010142; MedGen: C3493776; Orphanet: 90673; OMIM: 275200
Assertion and evidence details
Last Updated: Apr 9, 2023