Talk:I5006120

I think there are some problems with the way 23andme is calling this.

I am observing a number of Mendel errors in the typing of this variant. The SNP is in a coding region and is a nonsense mutation (Trp -> Ter)

Here's what I'm observing: Father is GG and mother is AA (neither has CF) children are GA and AA (first is called as a carrier on promethease, 2nd is not called, but has 2 CFTR variants and appears unaffected)

Another family, related to the first - mother is sister of mother in first family and has genotype AA. Unaffected by CF. Daughter is GG - Mendel error.

Third family, unrelated to above 2: Mother is GG 2 Children are both AA (Mendel errors)

The pattern of miscalling is not obvious, but since all families I checked showed Mendel errors, something is being miscalled.

We have looked into this, and you are correct. 23andMe is clearly overcalling the i5006120(A;A) genotype, and also appears to be overcalling the (A;G) genotype, which leaves open the possibility that they are undercalling the (G;G) genotype. We will flag the genotypes accordingly. Thanks for bringing this to our attention. Greg (talk) 00:47, 5 April 2018 (UTC)