BLM NM_000057.3:c.2207_2212delinsTAGATTC

Preferred Label : BLM NM_000057.3:c.2207_2212delinsTAGATTC;

NCIt synonyms : RECQ2 c.2207_2212elATCTGAinsTAGATTC; BLM NM_000057.3:c.2207_2212delATCTGAins7; blmAsh Mutation; NM_000057.3:c.2207_2212delATCTGAins7; BLM c.2207_2212delATCTGAins7; RECQL3 c.2207_2212delATCTGAinsTAGATTC; BLM(Ash) Mutation; BS c.2207_2212delATCTGAinsTAGATTC; BLM c.2207-2212delATCTGAinsTAGATTC; BLM c2281delATCTGAinsTAGATTC; Bloom Syndrome c.2207_2212delATCTGAinsTAGATTC; NM_000057.3:c.2207_2212delATCTGAinsTAGATTC; RECQL2 c.2207_2212delATCTGAinsTAGATTC; BLM c.2207_2212delATCTGAinsTAGATTC; NM_000057.3:c.2207_2212delinsTAGATTC; BLM NM_000057.3:c.2207_2212delATCTGAinsTAGATTC;

NCIt definition : A complex mutation in the BLM gene consisting of a 6 base pair deletion of the nucleotide sequence ATCTGA encompassing nucleic acid positions 2207 through 2212 accompanied by an insertion of 7 base pairs with the sequence TAGATTC.;

NCIt note : This BLM gene mutation is common in patients from Ashkenazi Jewish ancestry. The deletion of ATCTGA and insertion of TAGATTC causes the insertion of the four codons encoding leucine, aspartic acid, serine and arginine (LDSR) after the threonine at amino acid position 735; the arginine codon is followed by a stop codon. (Cell. 1995; 8:655-666 and Ref_Seq.);

NCI Metathesaurus CUI : CL373145;

Details

Origin ID

C131464;

UMLS CUI

C4329428;

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
- BLM NP_000048.1:p.Y736fs*4 [NCIt concept]
- BLM Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- BLM Gene [NCIt concept]

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