Splice-Site Mutation

Preferred Label : Splice-Site Mutation;

NCIt synonyms : Splice-Site Mutation Abnormality; Splice-Juction Mutation; Splice Region Variant;

NCIt related terms : Splice;

NCIt definition : Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message.;

Details

Origin ID

C19798;

UMLS CUI

C1519478;

Automatic exact mappings (from CISMeF team)
- mRNA cis splicing, via spliceosome [GO term]
- splicing [IUPAC Term]
Semantic type(s)
- Genetic Function [UMLS semantic type]
abnormality_associated_with_allele
- CYP2C19*2 Allele [NCIt concept]
- CYP2C19*7 Allele [NCIt concept]
- CYP2D6*11 Allele [NCIt concept]
- CYP2D6*4 Allele [NCIt concept]
- CYP2D6*44 Allele [NCIt concept]
- CYP3A5*10 Allele [NCIt concept]
- CYP3A5*3 Allele [NCIt concept]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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