Bill, thank you for the info but it's actually F1052V, Protein nomenclature is p.Phe1052Val and Nucleotide nomenclature is c.3154T>G
Apparently it may not cause CF but it can...I copy this from some paper work I have:
Summary for F1052V mutation:
This mutation has varying consequences.
Some patients with this mutation, combined with another CF-causing mutation, have CF.
Other patients with this mutation, combined with another CF causing mutation, do not have CF.
Because of this variability, it is very important that CLINICAL CRITERIA ALONE be used to determine whether a person with this mutation has CF.
Because the clinical manifestations of CF can vary over the course of a person's lifetime, people who have this mutation plus a mutation that is known to cause CF should have periodic check-ups with their doctor even if they have no clinical signs or symptoms of CF at the present time.
Clinical information shown below is taken only from patients in the CFTR2 database who have been diagnosed with CF.
There are other people with this mutation who do NOT have CF. Information from these people is NOT included in the clinical information below, because these individuals are not followed at a CF center and are not part of the **** database. Therefore, the data below is not representative of every person with this mutation.
Patients with CF who have this mutation are likely to be pancreatic sufficient. This means they may not need to take oral pancreatic enzyme supplements every day.
