NM_006206.6(PDGFRA):c.1749C>A (p.Asp583Glu) AND Gastrointestinal stromal tumor
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 15, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001373216.8
Allele description [Variation Report for NM_006206.6(PDGFRA):c.1749C>A (p.Asp583Glu)]
NM_006206.6(PDGFRA):c.1749C>A (p.Asp583Glu)
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
-
Luc7l protein [Mus musculus]
Luc7l protein [Mus musculus]gi|21706650|gb|AAH34135.1|Protein
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Last Updated: Sep 29, 2024