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BMS/GNA2042 - Human Genetics - S2 2025

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Although they are not showing symptoms, a person discovers they are heterozygous for a pathogenic variant rs121908745 in the gene for CFTR. This variant can contribute to the development of cystic fibrosis, an autosomal recessive disease.

What are the implications of this finding? Select all statements that apply.

Increased risk of having a child with cystic fibrosis

The participant likely has a second CFTR variant, making them a compound heterozygote.

Other relatives may be at higher risk of having an affected child.

Given they are unaffected, this variant is likely to be common in the population (allele frequency >0.95)

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