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How to read gene variants
Hi,
I see a variant in a document written like this "A > A/AG", but what does it mean? It's a human genome so does it mean one allele is not changed, but the other allele is changed to G?
Thank you.
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1 answer
Hello and good morning from Zimbabwe,
More likely to mean that one allele has an insertion of G.
- Allele 1: A
- Allele 2: AG
The slash indicates that this is an un-phased call.
However, for certainty, please quote the source.
Kevin
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