An individual with a recessive pathogenic variant at a particular locus on one chromosome of a pair who is not expected to develop manifestations of the related condition; may also refer to an individual with a balanced chromosome rearrangement. Note regarding autosomal dominant disorders: While the terms "heterozygote" and "carrier" are often used synonymously in the literature, GeneReviews does not consider a heterozygote (who has - or is at risk of developing - manifestations of a disorder) to be a carrier.

Related terms: autosomal recessive; carrier rate; carrier testing; heterozygote; obligate heterozygote; X-linked