Welcome to the State of California 

The California CFTR DNA Mutation Panel

The California CFTR DNA mutation panel consists of the following mutations: 1288insTA, 1717-1G>A, 1812-1G>A, 2055del9>A, 2105-2117del13insAGAAA, 2307insA, 3120+1G>A, 3272-26A>G, 3791delC, 3849+10kbC>T, 3876delA, 406-1G>A, 621+1G>T, 663delT, 711+1G>T, 935delA, A559T, CFTRdel2,3(21kb), delF311, delF508, delI507, G330X, G542X, G551D, G85E, H199Y, N1303K, P205S, Q98R, R1066C, R1162X, R334W, R553X, R75X, S492F, S549N, W1089X, W1204X (3743G>A), W1204X(3744G>A), W1282X.

The California CFTR Mutation Panel is run at Stanford University Medical Center, Molecular Pathology Laboratory, 300 Pasteur Dr., Palo Alto, CA 94305. Director: Iris Schrijver, MD (650) 724-2403

Last modified on: 12/21/2012 8:48 PM