BLM NP_000048.1:p.Y736fs*4

Preferred Label : BLM NP_000048.1:p.Y736fs*4;

NCIt synonyms : RecQ2 Tyr736fs*4; Bloom Syndrome Protein Tyr736fs*4; BLM p.Y736fs*4; DNA Helicase, RecQ-Like Type 2 Tyr736fs*4; BLM Y736fs*4; BLM NP_000048.1:p.Tyr736fs*4; NP_000048.1:p.Tyr736fs*4; RecQ2 Y736fs*4; Bloom Syndrome Protein Y736fs*4; DNA Helicase, RecQ-Like Type 2 Y736fs*4; NP_000048.1:p.Y736fs*4; RecQ Protein-Like 3 Tyr736fs*4; blmAsh Protein; BLM(Ash) Protein; BLM p.Tyr736fs*4; BLM Tyr736fs*4; RecQ Protein-Like 3 Y736fs*4;

NCIt definition : A change in the amino acid sequence of Bloom syndrome protein where a frameshift mutation results in the replacement of a tyrosine residue at position 736 with 3 non-canonic amino acids followed by a stop codon.;

NCIt note : This variation results in the insertion of leucine, aspartic acid, serine and arginine (LDSR) and a stop codon following the threonine at amino acid position 735 in Bloom syndrome protein. (Cell. 1995; 8:655-666 and Ref_Seq.);

NCI Metathesaurus CUI : CL514252;

Details

Origin ID

C131466;

UMLS CUI

C4331839;

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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