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; in GeneReviews, generally reserved for autosomal recessive conditions; may also refer to an individual with a balanced chromosome rearrangement. Note regarding autosomal dominant disorders: 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; heterozygous; obligate heterozygote

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