NM_000369.5(TSHR):c.*116G>A AND Familial hyperthyroidism due to mutations in TSH receptor
- 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:
- RCV000328706.5
Allele description [Variation Report for NM_000369.5(TSHR):c.*116G>A]
NM_000369.5(TSHR):c.*116G>A
Condition(s)
- Name:
- Familial hyperthyroidism due to mutations in TSH receptor
- Synonyms:
- HYPERTHYROIDISM, CONGENITAL NONAUTOIMMUNE; HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOSOMAL DOMINANT; TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012203; MedGen: C1836706; Orphanet: 424; OMIM: 609152
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SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 [Homo sapiens]
SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 [Homo sapiens]Gene ID:90864Gene
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Gene Links for Nucleotide (Select 1022428935) (1)
Gene
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OMIM Links for GEO Profiles (Select 65669477) (1)
OMIM
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Last Updated: Apr 9, 2023