How to read gene variants

Question

[maricom]

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.

Answer 1

[Kevin Blighe]

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

[maricom]

Thank you!