NM_003001.5(SDHC):c.1A>T (p.Met1Leu) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000809572.7
Allele description [Variation Report for NM_003001.5(SDHC):c.1A>T (p.Met1Leu)]
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)
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
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Bacillus subtilis strain BioD2 16S ribosomal RNA gene, partial sequence
Bacillus subtilis strain BioD2 16S ribosomal RNA gene, partial sequencegi|322410694|gb|HQ190905.1|Nucleotide
-
Homo sapiens isolate CHM13 chromosome 6, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 6, alternate assembly T2T-CHM13v2.0gi|2194974009|gnl|ASM:GCF_009914825 f|NC_060930.1||gpp|GPC_000012745.1||gnl|NCBI_GENOMES|119566Nucleotide
-
txid114243[Organism:noexp] AND (latest[filter] AND all[filter] NO... (191)
txid114243[Organism:noexp] AND (latest[filter] AND all[filter] NOT anomalous[filter])SearchAssembly
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Dictyostelium discoideum DNA upstream of rDNA containing HSR and topoisomerase I...
Dictyostelium discoideum DNA upstream of rDNA containing HSR and topoisomerase I recognition sequencesgi|7359|emb|X14186.1|Nucleotide
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Last Updated: May 12, 2024