Polymorphism

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MasonsMom

New member
We just got back from Mason's checkup and we have now been told that along with having two known CF mutations on one gene, he also has an m407v Polymorphism on the normal gene. Has anyone else ever heard of the polymorphism? We were told this is a rather new thing in the CF community, but I am hoping someone else has heard of this as well. Thanks!

Velvet
 
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anonymous

New member
My daughters doctor didn't say much but I have her paper work in front of me and all it says is.... One copy of M470V. This polymorphiss(replacement of methionine by valine at position 470 of the CFTR protein) is caused by an A>G change at Nucleotide 1540 in exon 10. What ever this is suppose to mean would be nice.Has anyone ever heard of a novel variant? My daughter also has one of themalso including her 2 mutations F508 and 991_995 deletion of AACTT. She seems to be doing good so far. She is 8 months this Mon.
Mom of Saydee
 
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