Definition(s)
- An
alteration in the normal sequence of a gene, the significance of which is
often unclear until further study of the genotype and corresponding phenotype
occurs in a sufficiently large population. Complete gene sequencing often
identifies numerous allelic variants (sometimes hundreds) for a given gene.
-
Definition from: GeneReviews
from the University of Washington and the National Center for Biotechnology Information
See also Understanding Medical Terminology.