CALR NM_004343.3:c.1092_1143del52

Preferred Label : CALR NM_004343.3:c.1092_1143del52;

NCIt synonyms : RO c.1092_1143del52; Autoantigen Ro Gene c.1092_1143del52; cC1qR c.1092_1143del52; CALR Type 1 Gene Mutation; CALR1 Gene Mutation; Type 1 CALR Gene Variant; Calreticulin Gene c.1092_1143del52; NM_004343.3:c.1092_1143del52; CRT c.1092_1143del52; CALR c.1092_1143del52;

NCIt related terms : CALR1;

NCIt definition : A deletion of 52 nucleotides from the coding sequence of the CALR gene from positions 1092 through 1143.;

NCIt note : In patients with CALR mutation-associatied primary myelofibrosis, CALR NM_004343.3:c.1092_1143del52 is the most common mutation. This mutation may be predicative of a favorable survival prognosis.;

NCI Metathesaurus CUI : CL512916;

PubMed : 24569778;

Details

Origin ID

C129834;

UMLS CUI

C4329499;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- CALR NP_004334.1:p.L367fs*46 [NCIt concept]
- CALR Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- CALR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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