NM_003000.3(SDHB):c.703C>T (p.Gln235Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003780942.1
Allele description
NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)
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
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Homo sapiens laccase domain containing 1 (LACC1), transcript variant 11, mRNA
Homo sapiens laccase domain containing 1 (LACC1), transcript variant 11, mRNAgi|1676441689|ref|NM_001350646.2|Nucleotide
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Homologene neighbors for GEO Profiles (Select 39959141) (0)
GEO Profiles
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Homologene neighbors for GEO Profiles (Select 44326680) (0)
GEO Profiles
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Profile neighbors for GEO Profiles (Select 45814953) (199)
GEO Profiles
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Taxonomy Links for Protein (Select 1162406144) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024