Special mutations questions, -/-, or long ccaccggaa ones

Hi, I have a genetic issue which is known but the variant is not properly typed yet. I’m trying to understand the these weirder types of mutations on a relevant gene.

My question is: are these options in the ‘variants’ column in 23andme’s raw data checker variants that could exist in MY case, or are these the ones that everyone will have on this specific rs? So if it says -/cccaaacca everyone on earth will have a combo of those two on this exact SNP? Because when I click on the blue SNP nr link it leads me to the NCIB page with the same -/cccaacc options for alleles and the clinical relevance is marked as ‘With pathogenic allele’. I suppose everyone will get to see this and this page is not connected to my special variants, right? Just super confused about how this works whether are not the regular A’s and G’s.

I also found a homozygous deletion (is that a double deletion?) Livewello says this makes the rest of the sequence different. Does this mean my gene is bound to be screwed up from that mutation on forward, or is there no problem because both the alleles are missing so they could still magically match up? (And should I be lucky to be rid of it maybe…) So I only get the consequences of that tiny bit missing?

Same gene, TT where the SNP’s variant options were -/T . Livewello says this is the homozygous variant and a double insertion. What does this mean?

Next to that I have a couple of long letter sequences there, where the options are -/ccaaggaacaagg for example. Sometimes I get double long letter ones for genotype, sometimes combined with the -/. Something with splice donor?

I hope someone with advanced knowledge if this stuff could shed some light here. Thanks!


Not quite sure what you’re asking here but you don’t really need to be concerned with the long letter sequences. All you really need to know is if you have the variant or not. 23andme isn’t advanced enough to break things down on the level you’re talking. They’re just saying “you might have this” or “you might not”. And I say “might” because they have a an error rate of 1-5%

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