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Heterozygous Mutations

Meaning

Heterozygous mutations describe a genetic state where an individual possesses two distinct versions, or alleles, for a particular gene, with one allele being the normal, functional sequence and the other carrying a disease-causing or non-functional genetic alteration. This means the mutation is present on only one of the two homologous chromosomes inherited from the parents. The clinical expression of the mutation is dependent on the mode of inheritance, often resulting in a carrier state for recessive disorders or a milder phenotype for dominant conditions.