Pathogenic Variations

  "A genetic alteration that increases the susceptibility or predisposition of an individual to a particular illness or disorder. If such a variation (or mutation) is inherited, symptom production is more probable, but not definite. Also known as deleterious mutation, mutation causing the disease, mutation predisposing and gene mutation susceptibility. There is a high probability (more than 90 percent certainty) that this variant is causing the disease. ...  Although synonymous single nucleotide variants (sSNVs) do not modify the protein sequences, it has been shown that they play a significant role in human disease. It is difficult to differentiate pathogenic sSNVs from neutral ones, since pathogenic sSNVs appeaar to be small in prevalence. Genetic variation has three sources: mutation, gene flow and sexual reproduction."    

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