NM_003001.5(SDHC):c.166A>C (p.Ile56Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000641919.12
Allele description [Variation Report for NM_003001.5(SDHC):c.166A>C (p.Ile56Leu)]
NM_003001.5(SDHC):c.166A>C (p.Ile56Leu)
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
-
protein FAM200C [Homo sapiens]
protein FAM200C [Homo sapiens]gi|28916698|ref|NP_071373.2|Protein
-
dc50g11.y1 NICHD_XGC_Emb3 Xenopus laevis cDNA clone IMAGE:3400533 5', mRNA seque...
dc50g11.y1 NICHD_XGC_Emb3 Xenopus laevis cDNA clone IMAGE:3400533 5', mRNA sequencegi|12695333|gnl|dbEST|7762557|gb|BG 4.1|Nucleotide
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Last Updated: Sep 29, 2024