NM_003001.5(SDHC):c.36T>C (p.His12=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002654549.3
Allele description [Variation Report for NM_003001.5(SDHC):c.36T>C (p.His12=)]
NM_003001.5(SDHC):c.36T>C (p.His12=)
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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Taxonomy Links for Nucleotide (Select 2557795974) (1)
Taxonomy
-
DMSO2
DMSO2biosample
-
Gene Links for dbVar (Select 45738600) (0)
Gene
-
PREDICTED: Homo sapiens presenilin 2 (PSEN2), transcript variant X5, mRNA
PREDICTED: Homo sapiens presenilin 2 (PSEN2), transcript variant X5, mRNAgi|2217269288|ref|XM_047425601.1|Nucleotide
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PREDICTED: Homo sapiens WRN RecQ like helicase (WRN), transcript variant X2, mis...
PREDICTED: Homo sapiens WRN RecQ like helicase (WRN), transcript variant X2, misc_RNAgi|2462620957|ref|XR_008487878.1|Nucleotide
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Last Updated: May 12, 2024