splice-site variant

{
  "id": "MLC-T-ONC-007931",
  "term": "splice-site variant",
  "field": "Oncology and biomedicine",
  "definition": "A genetic alteration in the DNA sequence that occurs at the boundary of an exon and an intron (splice site). This change can disrupt RNA splicing resulting in the loss of exons or the inclusion of introns and an altered protein-coding sequence. Also called splice-site mutation.",
  "synonyms": [
    "splice-site mutation"
  ],
  "references": [
    "NCI Dictionary of Genetics Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/splice-site-variant/"
}