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Heteroplasmy notation

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  • Heteroplasmy notation

    Hi,

    I have an extra mutation listed in my results as A16170R. I understand this is a heteroplasmy, but I'm not sure what that means or what to make of it. Does it mean I have both A and G at that position? (And A would not be a difference, so why would it show up?)

    Also, most of the external sites don't understand the R--it comes back as an error if I try to enter it. So what should I enter for this marker at, say, mitosearch.org?

    Thanks,
    Barbara

  • #2
    I have one too, I'd like to know more about it as well.

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    • #3
      Our Learning Center has several links that discuss heteroplasmy:

      https://www.familytreedna.com/learn/?s=heteroplasmy

      In mitosearch, you would have to choose one value or the other to enter, since it doesn't recognize the heteroplasmy nomenclature.

      Elise

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      • #4
        Thank you!

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        • #5
          Originally posted by BJZ View Post
          Hi,

          I have an extra mutation listed in my results as A16170R. I understand this is a heteroplasmy, but I'm not sure what that means or what to make of it. Does it mean I have both A and G at that position? (And A would not be a difference, so why would it show up?
          Yes, the R indicates that both A and G were detected. If it were only an A, no results would have been reported, but since both A and G were detected, they need a different symbol (R) to indicate the heteroplasmy.

          At mitosearch you can create two entries, one with 16170G and one with no data entered at 16170, and this will allow you to search for matches with both A and G at this marker.

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