Guest guest Posted August 15, 2003 Report Share Posted August 15, 2003 Try this link. http://www.genet.sickkids.on.ca/cftr-cgi-bin/MutationTable I am not sure if any research has been done on the rarer mutations and symptoms. Zach has G551D and K710X and there isn't much info out there. Sara - mommy to Zach 18 months Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2003 Report Share Posted August 16, 2003 someone here posted this addy a while back and so I kept it. Maybe it will help. www.genet.sickkids.on.ca/cftr-chi-bin/MutationTable need mutation info We just got genetic test results back for Emma. She has two uncommon mutations. I've spent hours trying to locate info on either of them, and haven't had much luck. Just wondering if anyone out there has any info. or could lead me in the right direction. I'd like to know which symptoms may go along with the mutations, correlation to life expectancy, and maybe even just how rare her mutations are. Here they are: 1154insTC, 3272-26A->G Thanks a bunch, W. in AR Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2003 Report Share Posted August 16, 2003 SARA, EILISH HAS G551D AND THE COMMON ONE. JULIE Re: need mutation info Try this link. http://www.genet.sickkids.on.ca/cftr-cgi-bin/MutationTable I am not sure if any research has been done on the rarer mutations and symptoms. Zach has G551D and K710X and there isn't much info out there. Sara - mommy to Zach 18 months Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 16, 2003 Report Share Posted August 16, 2003 has G551D and an even less common one that I can't find any info on 1898+1G<A other than it being listed as a mutation. Re: need mutation info Try this link. http://www.genet.sickkids.on.ca/cftr-cgi-bin/MutationTable I am not sure if any research has been done on the rarer mutations and symptoms. Zach has G551D and K710X and there isn't much info out there. Sara - mommy to Zach 18 months Quote Link to comment Share on other sites More sharing options...
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