Mutations!

[Tré LaRosa Keymaster]

I’m curious to see the diversity of mutations we have in the forums.

1. What is your fist mutation?
2. Second variant?
3. When were you diagnosed?
4. Are your mutations rare?
5. Any other comments.

[Ulises Participant]

Hi, I don’t know about which is my main mutation, but the ones I have are dF508 and GX542.

I was diagnosed with CF in 1995, when I was seven years old.

I think the gx542 mutation is the rarest because there are less documentation about it in the Internet than the others.

[Luisa Palazola Keymaster]

@ulisesvera por se acaso, sera que tu mutacion es G542X. Esto es lo que me aparece https://www.cff.org/What-is-CF/Genetics/Know-Your-CFTR-Mutations-Infographic.pdf

[Luisa Palazola Keymaster]

I’m not sure what my first mutation @tre-larosa! But,

1. I know I have a copy of the df508 and l1077P
2. What is a second variant?!
3. I was diagnosed when I was nine years old (2002)
4. I think the L1077P is relatively rare.

I know there’s a really neat resource where you can look up your mutations and get some pretty neat feedback, but I have no clue where it is. @ulisesvera

[Ulises Participant]

Sí, exacto, tienes razón. G542X

🙂

[William Participant]

My mutation is R560T/621+1T
I was diagnosed at 3 months old in January 1993
And according to that one website where you can find out about mutations, there are only 10 other people out there with my exact mutation so, I’d say it’s pretty rare.

[Luisa Palazola Keymaster]

@williamryan wait which site are you using! if it’s the database I’m thinking of, could you post here?

[William Participant]

@luisa-palazola this is the website my doctor showed me a year ago https://www.cftr2.org/welcome

[Luisa Palazola Keymaster]

Ah! Yes @williamryan that’s the one I was thinking of! @ulisesvera creo que este sitio te puede ayudar! https://www.cftr2.org/welcome

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