Has anyone heard of mutation c.1584G>A also called [1716G/A]
One of the variations i have is the 1716g/a combined with two other variations, from the clinic they told me that they re not pathogenic ,from my own research ,somewhere i found a research mentioning that the 1716g/a may decrease cftr expression up to 10% and combined for example with the df508 wich decreases cftr up to 50% ,still both of them dont fullfill the requirements of a such lowered cftr expression which might cause serious problems,since for the lungs to work properly they need about 10% of cftr expression.
I am a 22 yr old male and my whole life i was healthy ,i ve got tested for CF because of my finger clubbing, borderline initially ,negative the second time, from that very stressfull period of my life (10 minths ago) i started having gut issues, i was afraid and still i am if it is related to my pancreas but ultrasound and serum enzymes were ok.
I would advice you not to be stressed ,even your moms syndrome might actually be CREST
best to you!