NM_003000.3(SDHB):c.73-9A>G AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 13, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001218490.5
Allele description [Variation Report for NM_003000.3(SDHB):c.73-9A>G]
NM_003000.3(SDHB):c.73-9A>G
Condition(s)
- Name:
- Gastrointestinal stromal tumor
- Synonyms:
- Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
- Identifiers:
- MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723
- Name:
- Paragangliomas 4 (PPGL4)
- Synonyms:
- CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Pheochromocytoma, extraadrenal and cervical paraganglioma; Paragangliomas, hereditary extraadrenal; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007273; MedGen: C1861848; Orphanet: 29072; OMIM: 115310
- Name:
- Pheochromocytoma
- Synonyms:
- Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666
Assertion and evidence details
Last Updated: Jul 15, 2024