Table 2.
Standard and Colloquial Nomenclature of Common Gene Variants
| Standard nomenclature | Colloquial nomenclature | Associated disease |
|---|---|---|
| F2 AF478696.1: g.21538G>A (c.* 97G>A)† | Prothrombin G20210A (or 20210G>A) | Venous thrombosis |
| F5 NM_000130.3: c.1601G>A (p.Arg534Gln) | Factor V 1691G>A (R506Q) | Venous thrombosis |
| MTHFR NM_005957.3: c.665C>T (p.Ala222Val) | MTHFR C677T (or 677C>T) | Homocystinemia |
| HFENM_000410.3: c.845G>A (p.Cys282Tyr) | HFE C282Y | Hemochromatosis |
| HFE NM_000410.3: c.187C>G (p.His63Asp) | HFE H63D | Hemochromatosis |
†
The symbol
*
is used for 3′-UTR region. The nucleotide number indicates the distance from the end of the stop codon, in this example, the 97th nucleotide after the stop codon. See Figure 1.