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A single base pair alteration which result in a premature stop codon.
A single base pair alteration which results in an altered amino acid.
A DNA alteration which has not been previously reported in a public database.
See nonsynonymous variant
The building blocks of RNA and DNA polymers which consist of a nitrogenous base (adenine (A), guanine (G), thymine (T), or cytosine (C) in DNA; adenine (A), guanine (G), uracil (U), or cytosine (C) in RNA), a phosphate molecule, and a sugar molecule (deoxyribose in DNA; ribose in RNA)
An allele which results in a lack of the gene’s normal function.