NM_003001.5(SDHC):c.82G>C (p.Val28Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001208039.11
Allele description [Variation Report for NM_003001.5(SDHC):c.82G>C (p.Val28Leu)]
NM_003001.5(SDHC):c.82G>C (p.Val28Leu)
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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Synthetic construct Mus musculus clone IMAGE:100063848, MGC:193315 RAS p21 prote...
Synthetic construct Mus musculus clone IMAGE:100063848, MGC:193315 RAS p21 protein activator 2 (Rasa2) mRNA, encodes complete proteingi|182888150|gb|BC160200.1|Nucleotide
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Last Updated: Sep 29, 2024