CALR Exon 9 Insertion Mutation

Preferred Label : CALR Exon 9 Insertion Mutation;

NCIt synonyms : RO Exon 9 Insertion Mutation; cC1qR Exon 9 Insertion Mutation; CRT Exon 9 Insertion Mutation; Autoantigen Ro Gene Exon 9 Insertion Mutation; Calreticulin Gene Exon 9 Insertion Mutation;

NCIt definition : A molecular genetic abnormality indicating the presence of an insertion mutation in exon 9 of the CALR gene. These insertion mutations are associated with primary myelofibrosis and may be predicative of shortened survival.;

NCI Metathesaurus CUI : CL512914;

Details

Origin ID

C129833;

UMLS CUI

C4329497;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- CALR Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- CALR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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