CALR NM_004343.3:c.1154_1155insTTGTC

Preferred Label : CALR NM_004343.3:c.1154_1155insTTGTC;

NCIt synonyms : CALR c.1154_1155ins5; CALR c.1154_1155insTTGTC; Type 2 CALR Gene Variant; CALR2 Gene Mutation; NM_004343.3:c.1154_1155ins5; NM_004343.3:c.1154_1155insTTGTC; Calreticulin Gene c.1154_1155ins5; CALR NM_004343.3:c.1154_1155ins5; Calreticulin Gene c.1154_1155insTTGTC; cC1qR c.1154_1155ins5; cC1qR c.1154_1155insTTGTC; Autoantigen Ro Gene c.1154_1155ins5; Autoantigen Ro Gene c.1154_1155insTTGTC; RO c.1154_1155ins5; RO c.1154_1155insTTGTC; CALR Type 2 Gene Mutation; CRT c.1154_1155ins5; CRT c.1154_1155insTTGTC;

NCIt related terms : CALR2;

NCIt definition : An insertion of five nucleotides, TTGTC, between positions 1154 and 1155 of the coding sequence of the CALR gene.;

NCIt note : In patients with CALR mutation-associatied primary myelofibrosis, CALR NM_004343.3:c.1154_1155insTTGTC is the second most common mutation. This mutation may be predicative of shortened survival.;

NCI Metathesaurus CUI : CL512917;

PubMed : 24569778;

Details

Origin ID

C129835;

UMLS CUI

C4329500;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- CALR NP_004334.1:p.K385fs*47 [NCIt concept]
- CALR Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- CALR Gene [NCIt concept]

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