CFTR nonsense w-1204, nonsense w-1143

Chr7: 117,267,718 G>A Pathogenic Zygosity: Homozygous dbSNP ID: rs121908764 Population Allele Frequency: 0.00% Gene Impact: CFTR NONSENSE W-1204-* NONSENSE W-1143-* Gene Impact: AC000111.6 INTRON Hello all, I'm a 42 year old male and I had all kinds of problems with my lungs all my life (Pneumonia half a dozen times, Bronchitis more times than I can count, and asthma. A few months ago I ordered an Asthma Peak Flow Meter and my air flow is much worse than it should be even when I do not have any asthma symptoms. For the past several weeks I have had Bronchitis. I didn't bother going to the doctor because this type of thing has happened so many times and the doctor doesn't really do anything. Every morning and every evening I make an attempt to cough up all the mucus I can out of my lungs and spit it into a trash can. This has been going on for weeks so I've been trying to stay in until my lungs are healed. Over the summer I did a genetic test with 23andme and last night I paid money to have my Genes anayzed by Enlis. Turns out that I have a Pathogenic gene mutation for Cystic Fibrosis. I was skeptical because I thought it was a deadly disease and I'm 42 years old. But I read about it and I have had the following issues that could be related: 1. Almost died of double Pneumonia when I was an infant. 2. Pneumonia several times growing up. The worst was when it went undiagnosed for a long time because the doctor could not hear it. But when I got incredibly i...
Source: Cystic Fibrosis DNA and Mutations Forum - Category: Respiratory Medicine Authors: Tags: DNA and Mutations Source Type: forums