SDHA NP_004159.2:p.R554W

Preferred Label : SDHA NP_004159.2:p.R554W;

NCIt synonyms : Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial Arg554Trp; Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial R554W; SDHA Arg554Trp; NP_004159.2:p.Arg554Trp; SDHA R554W; NP_004159.2:p.R554W; SDHA p.Arg554Trp; SDHA p.R554W; SDHA NP_004159.2:p.Arg554Trp;

NCIt definition : A change in the amino acid sequence at position 544 of the the succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial protein where arginine has been replaced by tryptophan.;

Details

Origin ID

C126833;

UMLS CUI

C4288265;

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_product_sequence_variation_encoded_by_gene_mutant
- SDHA Gene Mutation [NCIt concept]
- SDHA NM_004168.3:c.1660C>T [NCIt concept]
gene_product_variant_of_gene_product
- Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial [NCIt concept]
molecular_abnormality_involves_gene
- SDHA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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