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combination of p.Glu826Lys and p.Ala120Thr

Question: Father is carrier of c.2476G>A (p.Glu826Lys) and mother is carrier of c.3258G>A (p.Ala120Thr). Will the offspring develop cystic fibrosis?
Answer: Both of the variants you mention are variants that occur in people with disorders related to CFTR function (CFTR-RD). The person who inherits both changes is expected to develop mild symptoms of cystic fibrosis with pancreatic sufficiency.
Best regards,
M. Poulou; 09.03.2025

ECORN-CF European Centers of Reference Network for Cystic Fibrosis

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