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c.3154T>G (p.Phe1052Val)
- Question
- Good evening, I am 24 weeks pregnant and after a cystic fibrosis test I was positive for c.3154T>G, my husband did it too and we are waiting for the results. I wanted to ask if it is one of the dangerous mutations or one of the milder ones?
- Answer
- The change c.3154T>G (p.Phe1052Val) is a relatively mild change. If combined with a typical variant of Cystic Fibrosis it is not expected to lead to the appearance of typical disease with pancreatic insufficiency.
Best regards,
M. Poulou - 09.03.2025
