NM_000222.3(KIT):c.1990+1del AND Gastrointestinal stromal tumor
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001965129.4
Allele description [Variation Report for NM_000222.3(KIT):c.1990+1del]
NM_000222.3(KIT):c.1990+1del
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
-
activin receptor type-2A isoform 1 precursor [Homo sapiens]
activin receptor type-2A isoform 1 precursor [Homo sapiens]gi|4501897|ref|NP_001607.1|Protein
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Last Updated: Jul 15, 2024