"Sequence Variation" is sometimes designated as "polymorphism", indicating that it is "non-disease causing". According to the general definition in human genetics, a "polymorphism" has to reach an allelic frequency of 1%. In addition, when a sequence variation is found in one single individual, it is not possible to determine if it is "non-disease causing"

Detailed View of exon 6
Get the summary of a mutation by putting your mouse over that mutation. Click to view the details of that mutation.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011