NM_000222.3(KIT):c.2454del (p.Asn819fs) AND Gastrointestinal stromal tumor
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000470229.5
Allele description [Variation Report for NM_000222.3(KIT):c.2454del (p.Asn819fs)]
NM_000222.3(KIT):c.2454del (p.Asn819fs)
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
-
TI_59393944 (0)
Nucleotide
-
Homo sapiens cDNA, FLJ98530
Homo sapiens cDNA, FLJ98530gi|164695837|dbj|AK308489.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024