GENE MUTATION

Nikole

New member
class 5 mutation

Hello. I have a 3-1/2 yr. old daughter with CF. She was born with a bowel obstruction and lost an adequate amount of intestines at birth. She was tested for CF twice bc of this and both times was negative. When we moved to a new town, her new gastro wanted to test her again bc she had alot of malabsorption and tummy aches plus protrudring rectum while potty training. She tested positive genetically and then sweat test as well. Can anyone tell me if they know of anyone with a delta F508 mutation and a 711+1G>T??? I know it is a class 5 and I would like to know the severity of this mutation. Right now, she has no lung issues so far and is pushing 4 yrs. old
 

peter

New member
How interesting.... "handwriting". Holy cow. Handwriting in the 21st century. Didn't know that was acceptable LOL. Of course spell check doesn't always get it right either. Anyway it's serious to know the mutations. Good luck. This will always be the place to ask.
Blessings!
Peter
 

peter

New member
How interesting.... "handwriting". Holy cow. Handwriting in the 21st century. Didn't know that was acceptable LOL. Of course spell check doesn't always get it right either. Anyway it's serious to know the mutations. Good luck. This will always be the place to ask.
Blessings!
Peter
 

peter

New member
How interesting.... "handwriting". Holy cow. Handwriting in the 21st century. Didn't know that was acceptable LOL. Of course spell check doesn't always get it right either. Anyway it's serious to know the mutations. Good luck. This will always be the place to ask.
<br />Blessings!
<br />Peter
 

katzyloo

New member
class 5 mutation

Hi, Nikole, regarding your question about your daughters gene mutations, Iam afraid I can't offer any advice.
My son's diagnosis is new to me so Iam slowly leanring more and more about cf.
Have you tried to google the second gene?
My son has F508 and C2657+2_2657+3insA, and I know when I searched the second one I was able to find some information.
Sorry cant offer any other advice.
katie
 

katzyloo

New member
class 5 mutation

Hi, Nikole, regarding your question about your daughters gene mutations, Iam afraid I can't offer any advice.
My son's diagnosis is new to me so Iam slowly leanring more and more about cf.
Have you tried to google the second gene?
My son has F508 and C2657+2_2657+3insA, and I know when I searched the second one I was able to find some information.
Sorry cant offer any other advice.
katie
 

katzyloo

New member
class 5 mutation

Hi, Nikole, regarding your question about your daughters gene mutations, Iam afraid I can't offer any advice.
<br />My son's diagnosis is new to me so Iam slowly leanring more and more about cf.
<br />Have you tried to google the second gene?
<br />My son has F508 and C2657+2_2657+3insA, and I know when I searched the second one I was able to find some information.
<br />Sorry cant offer any other advice.
<br />katie
 

zaj1139

New member
I am very interested in the "class" talk: I googled CF mutations and found that I was using the DNA name and the legacy (mutations) are R560K and Y569C as well as the Delta F508. Would anyone know how I can get the class on the other two mutations?
 

zaj1139

New member
I am very interested in the "class" talk: I googled CF mutations and found that I was using the DNA name and the legacy (mutations) are R560K and Y569C as well as the Delta F508. Would anyone know how I can get the class on the other two mutations?
 

zaj1139

New member
I am very interested in the "class" talk: I googled CF mutations and found that I was using the DNA name and the legacy (mutations) are R560K and Y569C as well as the Delta F508. Would anyone know how I can get the class on the other two mutations?
 
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