A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.

DUI

D057895 MeSH Browser

CUI

M0539672

Previous indexing

Haplotypes (1994-2010); Heterozygote (1996-2010); Loss of Heterozygosity (1994-2010); Mutation (1994-2010)

History note

2011

Public note

2011