ramymiller
New member
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy
thanks~Ramy
You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
So which mutation do you have
- Thread starter tuelman
- Start date
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>ramymiller</b></i>
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy</end quote></div>
Here is a link.....
<a target=_blank class=ftalternatingbarlinklarge href="http://violin.genet.sickkids.on.ca/cftr/
">http://violin.genet.sickkids.on.ca/cftr/
</a>
Hope it helps! If the link doesnt work I copied/pasted the list onto my blog!
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy</end quote></div>
Here is a link.....
<a target=_blank class=ftalternatingbarlinklarge href="http://violin.genet.sickkids.on.ca/cftr/
">http://violin.genet.sickkids.on.ca/cftr/
</a>
Hope it helps! If the link doesnt work I copied/pasted the list onto my blog!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>ramymiller</b></i>
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy</end quote></div>
Here is a link.....
<a target=_blank class=ftalternatingbarlinklarge href="http://violin.genet.sickkids.on.ca/cftr/
">http://violin.genet.sickkids.on.ca/cftr/
</a>
Hope it helps! If the link doesnt work I copied/pasted the list onto my blog!
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy</end quote></div>
Here is a link.....
<a target=_blank class=ftalternatingbarlinklarge href="http://violin.genet.sickkids.on.ca/cftr/
">http://violin.genet.sickkids.on.ca/cftr/
</a>
Hope it helps! If the link doesnt work I copied/pasted the list onto my blog!
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>ramymiller</b></i>
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy</end quote></div>
Here is a link.....
<a target=_blank class=ftalternatingbarlinklarge href="http://violin.genet.sickkids.on.ca/cftr/
">http://violin.genet.sickkids.on.ca/cftr/
</a>
Hope it helps! If the link doesnt work I copied/pasted the list onto my blog!
Is there anywhere I can find the list of the mutations? like the order in which they go most common to rare??
thanks~Ramy</end quote></div>
Here is a link.....
<a target=_blank class=ftalternatingbarlinklarge href="http://violin.genet.sickkids.on.ca/cftr/
">http://violin.genet.sickkids.on.ca/cftr/
</a>
Hope it helps! If the link doesnt work I copied/pasted the list onto my blog!
mom2lillian
New member
Nicole (ClashPunk82) You will not believe this but I also have E60X and you are right it is rare though there had been more about it past 10 years or so. It is a nonsense mutation and the original article I have says it had only been seen once as of 1991. It is found in 0.4-0.7% of the irish population. I hvae P67L as my other mutation which is even more rare and was only able to be picked up as of 2003! Do you have an irish family lineage? I am what you might call 'heinz 57' <img src=""> but I do know of some direct (though distant) irish german and scottish background on my mom's side. I hope you get your new lungs soon.
E60X P67L dx 21yo, FEV~95%, ABPA, osteopenia, borderline diabetes
E60X P67L dx 21yo, FEV~95%, ABPA, osteopenia, borderline diabetes
mom2lillian
New member
Nicole (ClashPunk82) You will not believe this but I also have E60X and you are right it is rare though there had been more about it past 10 years or so. It is a nonsense mutation and the original article I have says it had only been seen once as of 1991. It is found in 0.4-0.7% of the irish population. I hvae P67L as my other mutation which is even more rare and was only able to be picked up as of 2003! Do you have an irish family lineage? I am what you might call 'heinz 57' <img src=""> but I do know of some direct (though distant) irish german and scottish background on my mom's side. I hope you get your new lungs soon.
E60X P67L dx 21yo, FEV~95%, ABPA, osteopenia, borderline diabetes
E60X P67L dx 21yo, FEV~95%, ABPA, osteopenia, borderline diabetes
mom2lillian
New member
Nicole (ClashPunk82) You will not believe this but I also have E60X and you are right it is rare though there had been more about it past 10 years or so. It is a nonsense mutation and the original article I have says it had only been seen once as of 1991. It is found in 0.4-0.7% of the irish population. I hvae P67L as my other mutation which is even more rare and was only able to be picked up as of 2003! Do you have an irish family lineage? I am what you might call 'heinz 57' <img src=""> but I do know of some direct (though distant) irish german and scottish background on my mom's side. I hope you get your new lungs soon.
E60X P67L dx 21yo, FEV~95%, ABPA, osteopenia, borderline diabetes
E60X P67L dx 21yo, FEV~95%, ABPA, osteopenia, borderline diabetes
I wasn't diagnosed until age 16....I mostly fault the doctors for that as I had shown signs since infancy and my parents had taken me to tons of doctors trying to get answers and everyone told them I was fine or I was faking it etc.
ANYWAY I am DF508/unidentified (haven't had ambry testing, my sweat test was very positive and I had all the clinical symptoms so no question of diagnosis)
I have mild-moderate digestive issues. I take enzymes. Thanks to a year straight of prednisone weight is not an issue. I have osteopenia, CF related arthritis. I have moderate lung issues. My FEV1 is excellent, noone can figure out why with all the lung problems I've had. The answer keeps going back to all the steroids I have been on and a year straight of prednisone that I was on right before and after my CF diagnosis
ANYWAY I am DF508/unidentified (haven't had ambry testing, my sweat test was very positive and I had all the clinical symptoms so no question of diagnosis)
I have mild-moderate digestive issues. I take enzymes. Thanks to a year straight of prednisone weight is not an issue. I have osteopenia, CF related arthritis. I have moderate lung issues. My FEV1 is excellent, noone can figure out why with all the lung problems I've had. The answer keeps going back to all the steroids I have been on and a year straight of prednisone that I was on right before and after my CF diagnosis
I wasn't diagnosed until age 16....I mostly fault the doctors for that as I had shown signs since infancy and my parents had taken me to tons of doctors trying to get answers and everyone told them I was fine or I was faking it etc.
ANYWAY I am DF508/unidentified (haven't had ambry testing, my sweat test was very positive and I had all the clinical symptoms so no question of diagnosis)
I have mild-moderate digestive issues. I take enzymes. Thanks to a year straight of prednisone weight is not an issue. I have osteopenia, CF related arthritis. I have moderate lung issues. My FEV1 is excellent, noone can figure out why with all the lung problems I've had. The answer keeps going back to all the steroids I have been on and a year straight of prednisone that I was on right before and after my CF diagnosis
ANYWAY I am DF508/unidentified (haven't had ambry testing, my sweat test was very positive and I had all the clinical symptoms so no question of diagnosis)
I have mild-moderate digestive issues. I take enzymes. Thanks to a year straight of prednisone weight is not an issue. I have osteopenia, CF related arthritis. I have moderate lung issues. My FEV1 is excellent, noone can figure out why with all the lung problems I've had. The answer keeps going back to all the steroids I have been on and a year straight of prednisone that I was on right before and after my CF diagnosis
I wasn't diagnosed until age 16....I mostly fault the doctors for that as I had shown signs since infancy and my parents had taken me to tons of doctors trying to get answers and everyone told them I was fine or I was faking it etc.
ANYWAY I am DF508/unidentified (haven't had ambry testing, my sweat test was very positive and I had all the clinical symptoms so no question of diagnosis)
I have mild-moderate digestive issues. I take enzymes. Thanks to a year straight of prednisone weight is not an issue. I have osteopenia, CF related arthritis. I have moderate lung issues. My FEV1 is excellent, noone can figure out why with all the lung problems I've had. The answer keeps going back to all the steroids I have been on and a year straight of prednisone that I was on right before and after my CF diagnosis
ANYWAY I am DF508/unidentified (haven't had ambry testing, my sweat test was very positive and I had all the clinical symptoms so no question of diagnosis)
I have mild-moderate digestive issues. I take enzymes. Thanks to a year straight of prednisone weight is not an issue. I have osteopenia, CF related arthritis. I have moderate lung issues. My FEV1 is excellent, noone can figure out why with all the lung problems I've had. The answer keeps going back to all the steroids I have been on and a year straight of prednisone that I was on right before and after my CF diagnosis
I've got E60X and Q493X mutations. I was diagnosed at birth -- 2 older siblings were born with CF and have since passed away. I have a moderate case of CF, although sometimes it doesn't feel moderate -- it feels worse than that! I was born with meconium illeus as well. That's how my brother died -- he had meconium illeus at birth... they opened him up to do surgery and put him back together the wrong way, as they had never come across meconium ileus and didn't know how to proceed (this was late 1950's). I'm 40 now and I'm not doing so bad. I've got no allergies, no sinus problems... my biggest concern right now, besides my lungs, is loss of bone density as I get older.
Barbara
40 w/cf & cfrd
Barbara
40 w/cf & cfrd
I've got E60X and Q493X mutations. I was diagnosed at birth -- 2 older siblings were born with CF and have since passed away. I have a moderate case of CF, although sometimes it doesn't feel moderate -- it feels worse than that! I was born with meconium illeus as well. That's how my brother died -- he had meconium illeus at birth... they opened him up to do surgery and put him back together the wrong way, as they had never come across meconium ileus and didn't know how to proceed (this was late 1950's). I'm 40 now and I'm not doing so bad. I've got no allergies, no sinus problems... my biggest concern right now, besides my lungs, is loss of bone density as I get older.
Barbara
40 w/cf & cfrd
Barbara
40 w/cf & cfrd
I've got E60X and Q493X mutations. I was diagnosed at birth -- 2 older siblings were born with CF and have since passed away. I have a moderate case of CF, although sometimes it doesn't feel moderate -- it feels worse than that! I was born with meconium illeus as well. That's how my brother died -- he had meconium illeus at birth... they opened him up to do surgery and put him back together the wrong way, as they had never come across meconium ileus and didn't know how to proceed (this was late 1950's). I'm 40 now and I'm not doing so bad. I've got no allergies, no sinus problems... my biggest concern right now, besides my lungs, is loss of bone density as I get older.
Barbara
40 w/cf & cfrd
Barbara
40 w/cf & cfrd