NM_003000.3(SDHB):c.94G>C (p.Ala32Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001970941.5
Allele description [Variation Report for NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)]
NM_003000.3(SDHB):c.94G>C (p.Ala32Pro)
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
-
protein Shroom4 isoform 2 [Mus musculus]
protein Shroom4 isoform 2 [Mus musculus]gi|924182911|ref|NP_001300693.1|Protein
-
LOC102724948 [Homo sapiens]
LOC102724948 [Homo sapiens]Gene ID:102724948Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024