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  1. C

    Welcome Ambry Genetics

    rnordlnd, Not trying to hijack the thread here but thought this info would be useful... Firstly, if your granddaughter has two genes then she has CF. The two genes you listed are very common. Delta F508 is the most common gene and W1282x is the most common gene among Ashkenazi Jews. Delta...
  2. C

    Does anyone know about these mutations?

    621+1G>t is an mRNA splicing mutation therefore a Class I.
  3. C

    Does anyone know about these mutations?

    621+1G>t is an mRNA splicing mutation therefore a Class I.
  4. C

    Does anyone know about these mutations?

    621+1G>t is an mRNA splicing mutation therefore a Class I.
  5. C

    Does anyone know about these mutations?

    621+1G>t is an mRNA splicing mutation therefore a Class I.
  6. C

    Does anyone know about these mutations?

    621+1G>t is an mRNA splicing mutation therefore a Class I.
  7. C

    Does anyone know about these mutations?

    Five mutations--delta F508, G542X, W1282X, N1303K, and 3849 + 10kb C-->T--account for 97% of the CF alleles in the Ashkenazi Jews. DF508 is a Class II gene and G542X is a Class I gene. Class I mutations lead to defects in the synthesis of stable CFTR mRNA transcripts resulting in absence of...
  8. C

    Does anyone know about these mutations?

    Five mutations--delta F508, G542X, W1282X, N1303K, and 3849 + 10kb C-->T--account for 97% of the CF alleles in the Ashkenazi Jews. DF508 is a Class II gene and G542X is a Class I gene. Class I mutations lead to defects in the synthesis of stable CFTR mRNA transcripts resulting in absence of...
  9. C

    Does anyone know about these mutations?

    Five mutations--delta F508, G542X, W1282X, N1303K, and 3849 + 10kb C-->T--account for 97% of the CF alleles in the Ashkenazi Jews. DF508 is a Class II gene and G542X is a Class I gene. Class I mutations lead to defects in the synthesis of stable CFTR mRNA transcripts resulting in absence of...
  10. C

    Does anyone know about these mutations?

    Five mutations--delta F508, G542X, W1282X, N1303K, and 3849 + 10kb C-->T--account for 97% of the CF alleles in the Ashkenazi Jews. DF508 is a Class II gene and G542X is a Class I gene. Class I mutations lead to defects in the synthesis of stable CFTR mRNA transcripts resulting in absence of...
  11. C

    Does anyone know about these mutations?

    Five mutations--delta F508, G542X, W1282X, N1303K, and 3849 + 10kb C-->T--account for 97% of the CF alleles in the Ashkenazi Jews. DF508 is a Class II gene and G542X is a Class I gene. Class I mutations lead to defects in the synthesis of stable CFTR mRNA transcripts resulting in absence of...
  12. C

    Where do I go to research mutations???

    A lot of new parents want to understand exactly what the future holds for their CFer. Although a lot of info has been gathered regarding genotype and phenotype the data has only served to generate some "rules of thumb". 1717-1G>A is an mRNA splicing type gene. These are typically classified as...
  13. C

    Where do I go to research mutations???

    A lot of new parents want to understand exactly what the future holds for their CFer. Although a lot of info has been gathered regarding genotype and phenotype the data has only served to generate some "rules of thumb". 1717-1G>A is an mRNA splicing type gene. These are typically classified as...
  14. C

    Where do I go to research mutations???

    A lot of new parents want to understand exactly what the future holds for their CFer. Although a lot of info has been gathered regarding genotype and phenotype the data has only served to generate some "rules of thumb". 1717-1G>A is an mRNA splicing type gene. These are typically classified as...
  15. C

    Where do I go to research mutations???

    A lot of new parents want to understand exactly what the future holds for their CFer. Although a lot of info has been gathered regarding genotype and phenotype the data has only served to generate some "rules of thumb". 1717-1G>A is an mRNA splicing type gene. These are typically classified as...
  16. C

    Where do I go to research mutations???

    A lot of new parents want to understand exactly what the future holds for their CFer. Although a lot of info has been gathered regarding genotype and phenotype the data has only served to generate some "rules of thumb". 1717-1G>A is an mRNA splicing type gene. These are typically classified as...
  17. C

    Genetic Results In

    Two mutations = CF. As Amy and Em pointed out, to dismiss your son's CF because one of the mutations is rare would be irresponsible and ignorant on the part of your Dr. The CF Center will want to see him because he has CF and should be treated.
  18. C

    Genetic Results In

    Two mutations = CF. As Amy and Em pointed out, to dismiss your son's CF because one of the mutations is rare would be irresponsible and ignorant on the part of your Dr. The CF Center will want to see him because he has CF and should be treated.
  19. C

    Genetic Results In

    Two mutations = CF. As Amy and Em pointed out, to dismiss your son's CF because one of the mutations is rare would be irresponsible and ignorant on the part of your Dr. The CF Center will want to see him because he has CF and should be treated.
  20. C

    Genetic Results In

    Two mutations = CF. As Amy and Em pointed out, to dismiss your son's CF because one of the mutations is rare would be irresponsible and ignorant on the part of your Dr. The CF Center will want to see him because he has CF and should be treated.
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