Preferred Label : HLA-A*01:01 Exon 3/4 Splicing Mutation;
NCIt synonyms : HLA-A*0101 Exon 3/4 Splicing Mutation; HLA-A*01:01 Exon 3/4 Splicing Defect; HLA-A0101 Exon 3/4 Splicing Mutation;
NCIt definition : A change in the nucleotide sequence of the HLA-A*01:01 allele that causes defective
splicing between exons 3 and 4.;
NCIt note : The expression of HLA-A*01:01 was absent in the colorectal cell line HCA-7. The transcript
was shortened and terminated in the region of the exon 3/4 boundary and sequence analysis
uncovered a cytosine insertion, which expanded a nucleotide repeat located at the
beginning of exon 4 from 7 cytosines to 8.;
NCI Metathesaurus CUI : CL1798558;
Origin ID : C189919;
UMLS CUI : C5708832;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
