NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002013250.7
Allele description [Variation Report for NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)]
NM_003000.3(SDHB):c.488C>A (p.Ser163Tyr)
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
-
Ighv1-50 (0)
MeSH
-
Mus musculus DAN domain family member 5, BMP antagonist (Dand5), transcript vari...
Mus musculus DAN domain family member 5, BMP antagonist (Dand5), transcript variant 1, mRNAgi|274318370|ref|NM_201227.3|Nucleotide
-
Homo sapiens growth factor, augmenter of liver regeneration (GFER), RefSeqGene o...
Homo sapiens growth factor, augmenter of liver regeneration (GFER), RefSeqGene on chromosome 16gi|282721091|ref|NG_016288.1|Nucleotide
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Last Updated: Sep 29, 2024