Talk:Rs58922911
From SNPedia
I read through the OMIM for this SNP, and it says the following: "In a 17-year-old Caucasian female with dilated cardiomyopathy and ovarian failure (212112), Nguyen et al. (2007) identified heterozygosity for a de novo 176T-C transition in exon 1 of the LMNA gene, predicted to result in a leu59-to-arg (L59R) substitution" The "heterozygosity" seems to imply that having one of each of the alleles - G and T - would produce the related issue as the OMIM is named, Cardiomyopathy Dilated, with Hypergonadotropic Hypogonadism. I may be reading it wrong. Also, this is the LMNA L59R mutation.
