i4000305(A;A)
From SNPedia
| a treatable form of cystic fibrosis |
| is a | genotype |
| of | I4000305 |
| mentioned | by |
| Magnitude | 5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | a treatable form of cystic fibrosis |
| (A;G) | 4 | carrier for cystic fibrosis |
| (G;G) | 0 | normal |
Found in 4% to 5% of cystic fibrosis patients, G551D-CFTR is the second most common genetic mutation after the delta F508-CFTR mutation, which is present in more than 90% of patients. An estimated 70,000 patients worldwide and 30,000 in the U.S. have cystic fibrosis.
http://www.reuters.com/article/2012/01/31/us-fda-vertex-kalydeco-idUSTRE80U1JA20120131
http://www.medpagetoday.com/Pulmonology/CysticFibrosis/30936
