SDHA NM_004168.3:c.1660C T

Preferred Label : SDHA NM_004168.3:c.1660C T;

NCIt synonyms : Succinate Dehydrogenase Complex Flavoprotein Subunit A c.1660C T; NM_004168.3:c.1660C T; SDHA c.1660C T; Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp) c.1660C T;

NCIt definition : A nucleotide substitution at position 1660 of the coding sequence of the SDHA gene where cytosine has been mutated to thymine.;

NCIt note : OMIM has assigned this variant the following identifier: 600857.0001;

NCI Metathesaurus CUI : CL508194;

SNP ID : rs9809219;

Details

Origin ID

C126831;

UMLS CUI

C4288266;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- SDHA NP_004159.2:p.R554W [NCIt concept]
- SDHA Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- SDHA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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