NM_000222.3(KIT):c.1901G>T (p.Arg634Leu) AND Gastrointestinal stromal tumor
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003639806.1
Allele description [Variation Report for NM_000222.3(KIT):c.1901G>T (p.Arg634Leu)]
NM_000222.3(KIT):c.1901G>T (p.Arg634Leu)
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
-
Oxynoemacheilus cemali[orgn] (23)
Nucleotide
-
cytochrome c oxidase subunit I (mitochondrion) [Mus musculus]
cytochrome c oxidase subunit I (mitochondrion) [Mus musculus]gi|34538600|gnl|NCBI_MITO|COX1_1735 |NP_904330.1|Protein
-
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloropl...
ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit, partial (chloroplast) [Carex atlantica]gi|1331045700|gb|AUR28484.1|Protein
-
ATP synthase F0 subunit 8 (mitochondrion) [Homo sapiens]
ATP synthase F0 subunit 8 (mitochondrion) [Homo sapiens]gi|251831111|ref|YP_003024030.1|Protein
-
MULTISPECIES: formate transporter FocA [Enterobacteriaceae]
MULTISPECIES: formate transporter FocA [Enterobacteriaceae]gi|446565200|ref|WP_000642546.1|Protein
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Last Updated: May 12, 2024