NM_000369.5(TSHR):c.928C>T (p.Arg310Cys) AND Hypothyroidism due to TSH receptor mutations
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2000
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000006827.4
Allele description [Variation Report for NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)]
NM_000369.5(TSHR):c.928C>T (p.Arg310Cys)
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
-
ST8SIA3 [Vulpes lagopus]
ST8SIA3 [Vulpes lagopus]Gene ID:121482141Gene
-
LOC109774234 [Aegilops tauschii]
LOC109774234 [Aegilops tauschii]Gene ID:109774234Gene
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See more...Assertion and evidence details
Last Updated: Mar 18, 2023