List of Mutations with Sympotoms

[Simba15]

Does anyone know where I can find a list or chart of utation combinations and the symptomology associated with each?

thank you.

 

[jricci]

Here's a website that allows you to input your mutation and it will give you statistics regarding that particular mutation:

http://www.cftr2.org

I hope that helps answer any questions you have.

 

[Simba15]

Here's a website that allows you to input your mutation and it will give you statistics regarding that particular mutation:

http://www.cftr2.org

I hope that helps answer any questions you have.

Thank you. I don't know if I am using the site correctly. I don't see either one of my mutations. ??

 

[Simba15]

Ok I figured it out. You hae to go down to the bottom and do a search. There are 162 of me in the database. This is good an bad. They know nothing about me and really can't help. They are guessing.

 

[stephen]

Simba15:

You may actually be part of the data base; I think most of us are.

At some point your CF Center probably gave you a form to sign which allowed them to share some of your data anonymously (without using you name) with other organizations. That is where the genetic data base complied at CFTR2.org comes from.

 

[Simba15]

Simba15:

You may actually be part of the data base; I think most of us are.

At some point your CF Center probably gave you a form to sign which allowed them to share some of your data anonymously (without using you name) with other organizations. That is where the genetic data base complied at CFTR2.org comes from.

Yes I am. There are only 162 of me in the world. They know little to nothing about my mutations. Makes it very hard for me to get appropriate treatment.