NM_000222.3(KIT):c.910A>G (p.Thr304Ala) AND Gastrointestinal stromal tumor
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001081377.15
Allele description [Variation Report for NM_000222.3(KIT):c.910A>G (p.Thr304Ala)]
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)
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
Assertion and evidence details
Last Updated: Sep 29, 2024