NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) AND Carney-Stratakis syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001329019.9
Allele description [Variation Report for NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)]
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
Condition(s)
- Name:
- Carney-Stratakis syndrome
- Synonyms:
- Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011740; MedGen: C1847319; Orphanet: 97286; OMIM: 606864
Assertion and evidence details
Last Updated: May 1, 2024