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Cystic Fibrosis Board Index
Pages: 1 Showing 1 - 20 of 20 for m470v mutation. (0.002 seconds)

... My son has double T7's and the M470v mutation, and has atually had his file reviewed by Dr. Orenstein, and he will still not give a definite diagnosis, they're just following him. ... (83 replies)
... I have done extensive reading. M470V is not considered to be disease causing, but those of us who have them know otherwise. I have found considerable research on it. ... (83 replies)
... According to our Ambry genetics test results it is known, not as a mutation or variant, but as a polymorphism. ... (6 replies)

... (6 replies)
... I need your help. I would appreciate it if anyone who has or knows someone who has the M470V and 5T or 7T genetics would answer this thread with a discription of symptoms, genetics, and diagnosis history. ... (6 replies)
... My son has two copies of the same gene CFTR M470V. Is there anyone out there that has this mutation or knows someone with it? ... (0 replies)
Meconium ileus
Oct 7, 2006
... He has a m470v mutation. He had other mutations as well which I can't remember off hand. ... (9 replies)
... it appears that she has the same one twice...from me and her father, if I am understanding these results correctly. I believe that this is not considered a CF mutation unless that you have a "repeat" of it, which seems to be the case. I don't know if I am understanding all of this "lingo" though! ... (83 replies)
... It seems that your daughter is a carrier of CF because with CF you must have both the 7T geene to be one of the many mutation of the CF geene for instant my daughter has a G558F and Delta 5. ... (83 replies)
... m470v. I was so devastated. I realize they haven't found a mutation yet, but I know it's possible they will never be able to locate if he has one. I was so shocked. ... (0 replies)
... Genetic testing can be done to also test for CF and this allow you to know what mutation they have if the test is positive. The best test is from Ambry Genetics in California. They can test for the most different mutations. ... (4 replies)
Jul 21, 2004
... I don't think my genetic test was an Ambry, but I could be wrong. I get my repeat sweat test done tomorrow.. gah... wish me luck. I really hope it comes back low. My doctor also said something about a nasal potential difference test to be done at John-Hopkins Hospital or something if I was borderline/positive again. Oh well, thanks for responding. Take care. :) (2 replies)
Jul 15, 2004
... Did your genetic testing involve AMBRY GENETICS or was it a screener test. The screener's only look about 70 mutations. AMBRY actually maps the gene. You could have a rare mutation, polymorphism, or variant on the other allele that is adding to the picture. My sweat tests were 46 one time and 16 the next. I have lots of mild symptoms (underdeveloped sinus and chronic... (2 replies)
... on exon 10 of the CTFR gene. This polymorphism is not currently believed to be disease causing as reported in the CF Mutation Dataa Base compiled by the CF Genetic Analysis Consortium but may contribute in unknown ways to the ultimate phenotype. ... (1 replies)
... is funny that you ask about the polymorphism because I just talked about it with Courtney's doctor. Courtney's DNA test did not come up with the second mutation but did show that she had the M470V polymorphism. When I tried to research it on the computer I just became more confused. ... (18 replies)
Cf-cystic fibrosis
Feb 20, 2013
... We need your guidance to CFTR mutations which is incidentally found as a result of genetic analysis of me and my husband. I am 33 years old woman with no clinic health problem and I carry HETEROZYGOT D1152H MUTATION. My husband 34 years old with no clinic health problem but he carries (Searched for CFTR gene exon 1, 2 ,3 ,4 ,5 ,6a ,6b ,7 ,8 ,9 ,10 ,11 ,12 ,13a ,13b ,14a,14b... (0 replies)
... Hi My son has the same mutation as your husband- I think you meant m470v. He has the chronic sinusitis, pancreatic issues and pulmonary issues but they do not treat him as a person with the actual disease. He takes various medications and is sick quite often but he is a typical little boy. You may want to go to the cf webpage or the Boomer Esison webpage. They have an... (1 replies)
... I did an internet search on the M470V and came up with some interesting medical articles -- talks about chronic sinus problems the affect people with this mutation. Might be worth it to do a search on it yourself and see what you come up with. (6 replies)
... Hi. I typed some of the details of my daughter's DNA test results into my serach engine and came up with your posting. My daughter has the exact, I MEAN EXACT results as you. She is 8 years old and we have been trying to get a solid diagnosis for the past 5 years. The last doctor (who did this DNA test) called me last month and said that the genetic testing (did yours go to... (1 replies)
... But the 2nd and more comprehensive genetics test found a polymorphism M470V intron 8 exon 10. ... (0 replies)

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