A C deletion in this SNP is the most common mutation as per this PubMed article, and this SNP relates to Maple Syrup Urine disease. This entry links the mutation mentioned, BCKDHA c.117delC, to this particular SNP. I didn't actually add it to the page itself because I'm not 100% sure it's correct, but I'm pretty sure it is. I'd rather someone factcheck this than assume I'm correct and have it added on.
- Yes, this is a mutation for MSUD, and it would be good to add. It did take quite a while to prove this, though, since despite the mention in ClinVar, tracking down a citation was surprisingly hard. But eventually I found [PMID 19456321] was quite clearly supports the mutational assignment. Do you want to annotate the rs# page and the genotypes, or would you prefer us to? Greg (talk) 19:38, 28 August 2015 (UTC)
- I'd prefer if it you lot did, I'm still learning the ropes for how to edit things here, such as the rules and the actual markup for editing -- for now, I'm keeping to what I do best, which is researching and finding information. Thank you!