BLM Protein Variant

Preferred Label : BLM Protein Variant;

NCIt synonyms : Bloom Syndrome Protein Variant; DNA Helicase, RecQ-Like Type 2 Protein Variant; RecQ2 Protein Variant; RecQ Protein-Like 3 Protein Variant;

NCIt definition : A variation in the amino acid sequence for Bloom syndrome protein.;

NCI Metathesaurus CUI : CL514253;

Details

Origin ID

C131465;

UMLS CUI

C4329429;

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
- BLM Gene Mutation [NCIt concept]
- BLM NM_000057.3:c.2207_2212delinsTAGATTC [NCIt concept]
gene_product_variant_of_gene_product
- Bloom Syndrome Protein [NCIt concept]
molecular_abnormality_involves_gene
- BLM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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