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See amino acid
See autosomal dominant
An alternate form of a gene at a given locus or location in the genome. Each locus has two alleles, one inherited from each parent.
An individual diagnosed with a disease or disorder of who shows signs or symptoms of a condition.
Variant alleles found at a single locus which can result in the same phenotype.
One of 20 molecules made by instructions contained in DNA. These molecules are linked together to form proteins.
An earlier age of onset and/or greater severity of disease with subsequent generations in a family seen with certain genetic disorders, notably the trinucleotide repeat disorders.
See autosomal recessive
A statistical relationship between two variables. Most commonly an allele found more or less frequently with a specific disease than in the general population.
The right to make decisions about oneself.
A chromosome that is not a sex chromosome. Humans have 22 pairs of autosomes.
Inheritance of a gene on an autosome. A disease caused by a gene not on a sex chromosome has autosomal inheritance.
A disease caused by a gene not on a sex chromosome. The phenotype/disease/trait is expressed by individuals who have one copy of the gene variant. Individuals with an autosomal dominant condition have a 50% chance of passing the gene variant to offspring with each pregnancy.
A disease caused by a gene not on a sex chromosome. The phenotype/disease/trait is expressed by individuals who have inherited two genetic variants at the same locus or gene. Most often one changed copy of the gene is inherited from each parent.