App Mutation

Newcomer introductions, personal anecdotes, caregiver issues, lab results, and n=1 experimentation.
Cat111
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App Mutation

Post by Cat111 »

Please could someone help me figure out what App mutation I have. 2 years ago I was on the Recode program and the report states that I have an App mutation. For the life of me I can not find the gene. Thank you in advance.
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floramaria
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Re: App Mutation

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Cat111 wrote:Please could someone help me figure out what App mutation I have. 2 years ago I was on the Recode program and the report states that I have an App mutation. For the life of me I can not find the gene. Thank you in advance.
Hi Cat111, APP is amyloid precursor protein. APP mutation means there is a mutation of that protein. On the raw results that produce your ReCODE REport, “APP mutation” is a question that gets answered Yes or No by either you or the practitioner who filled out the questionnaire section. Since the test for this is not included in the lab work by Apollo Health, an APP mutation would have come from other genetic testing. Did you have testing through 23 & Me or Ancestry.com and then run your results through another program like Promethease? Or did your practitioner order genetic testing.

Something to consider:
Unless you had testing that determined you have an APP mutation, it is possible that the YES/NO question was answered incorrectly and then incorporated into your report.
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Cat111
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App Mutation

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correction
Last edited by Cat111 on Sun Feb 14, 2021 9:50 am, edited 1 time in total.
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Re: App Mutation

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Cat111 wrote:Yes, I did 23 and me. My practitioner had me send it through Livewello. The Recode report said yes to App mutation. I searched on Promethease and I do not see App. I have gone through the raw data on 23 and me and manually search on line... but I do not see App with a mutation. Just wondering if there is another way.... Thank you.
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Re: App Mutation

Post by Cat111 »

floramaria wrote:
Cat111 wrote:Please could someone help me figure out what App mutation I have. 2 years ago I was on the Recode program and the report states that I have an App mutation. For the life of me I can not find the gene. Thank you in advance.
Hi Cat111, APP is amyloid precursor protein. APP mutation means there is a mutation of that protein. On the raw results that produce your ReCODE REport, “APP mutation” is a question that gets answered Yes or No by either you or the practitioner who filled out the questionnaire section. Since the test for this is not included in the lab work by Apollo Health, an APP mutation would have come from other genetic testing. Did you have testing through 23 & Me or Ancestry.com and then run your results through another program like Promethease? Or did your practitioner order genetic testing.

Something to consider:
Unless you had testing that determined you have an APP mutation, it is possible that the YES/NO question was answered incorrectly and then incorporated into your report.
Last edited by Cat111 on Sun Feb 14, 2021 5:09 pm, edited 1 time in total.
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Re: App Mutation

Post by Cat111 »

Yes, I did 23 and me. My practitioner had me send it through Livewello. The Recode report said yes to App mutation. I searched on Promethease and I do not see App. I have gone through the raw data on 23 and me and manually search on line... but I do not see App with a mutation. Just wondering if there is another way.... Thank you
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floramaria
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Re: App Mutation

Post by floramaria »

Cat111 wrote:Yes, I did 23 and me. My practitioner had me send it through Livewello. The Recode report said yes to App mutation. I searched on Promethease and I do not see App. I have gone through the raw data on 23 and me and manually search on line... but I do not see App with a mutation. Just wondering if there is another way.... Thank you
Hi Cat111, if you do not see the APP mutation , perhaps it was mistakenly entered on the questionnaire. Your ReCODE Report is only as accurate as the raw data that is entered, and as I said, the APP mutation entry is a YES/No question that someone entered into questionnaire. In some cases, the ReCODE participant answers those questions online on the Apollo site, and other times the questions are answered by the practitioner. Since your practitioner had you run the 23&Me results through Livewello, you might consider contacting him or her to clarify whether you have the APP mutation or whether the questionnaire entry was an error.
It would be good to know this definitely.
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Re: App Mutation

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Thank you.
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Re: App Mutation

Post by floramaria »

Cat111 wrote:Thank you.
You’re welcome. I hope you’ll post here what you find out about whether or not you actually have that APP mutation.
Best wishes and Happy Valentine’s Day ♥️
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Re: App Mutation

Post by Cat111 »

APP GENE AND ALZHEIMERS
SNP rsID Minor Allele Genotype Phenotype
APP rs128648 C CC +/+
APP rs2000989 C TT -/-
APP rs2070655 T TT +/+*******
APP rs2226332 G AA -/-
APP rs2829973 G AA -/-
APP rs2830006 T CC -/-
APP rs2830008 C TT -/-
APP rs2830051 C TT -/-
APP rs2830076 T CC -/-
APP rs373521 A AC +/-
APP rs380417 C CT +/-
APP rs383700 A AG +/-
APP rs3991 A CC -/-
APP rs454017 A AC +/-
APP rs462281 G AA -/-
APP rs63750066 T CC -/-
APP rs6516727 G AA -/-
APP rs7276036 A GG -/-
APP rs7283136 C TT -/-
APP rs9981258 T GG -/-
I think this is the gene Recode referenced. My Recode Doc wants $480.00 to discuss this with me. Does anyone have any clue? Thank you.
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