I do not think that this gene creates PKU. I and my son both have CC in this location (by 23 and me) and we do not have PKU.
I don't understand how the orientation works. Being C;C on this gene is okay? Should we be able to metabolize phenylalanine?
Yes you are fine. C;C and G;G are sadly easily confused, due to differences between the reference used by 23andMe vs dbSNP. Promethease would have handled this correctly, but if you look them up yourself C/G snps are difficult to interpret. --- cariaso 18:24, 19 February 2015 (UTC)
Same person as above, just wanted to respond. Thank you for your response - I really appreciate the feedback. Just wanted to clarify - you said Promethease would have handled this correctly, but it is the one that warned me about this RSID. On my report, it was the first item on the "bad" SNPs (I was listed as C;C and positive for phenylketonuria). I should add that I'm 28 years old, so presumably a PKU test would have been done on me as a newborn. Also, I'm only mildly mentally retarded.
- It would be helpful if you would email firstname.lastname@example.org so that I can track down your report and investigate. --- cariaso 23:10, 19 February 2015 (UTC)
I would like to add further clarification to this issue because showing up positive as a PKU scared the crap out of me:
"If the value is 'plus' you don't need to do anything, 23andMe agrees with dbSNP.
If the value is 'minus' you need to change:
A->T T->A C->G G->C"
On 23andme, I am C;C on this gene. However, I am "minus", therefore the allele should be flipped from C to G. In actuality I am G;G.
If you are reading this, having tested positive for PKU, please double check your raw data from 23andme. If your result is C;C and minus, in actuality you are G;G, and this allele is completely normal.