How to denote genetic mutations
Nikolay's Genetics Lessons
Published at : 27 Oct 2020
he key component of nomenclature is the gene or locus name and symbol, which identifies a unit of inheritance. Other features, such as alleles, variants and mutations, are secondary to the gene name and become associated with it. Similarly, probes or assays used to detect a gene are not primary features and should not normally be used as names.
The primary purpose of a gene or locus name and symbol is to be a unique identifier so that information about the gene in publications, databases and other forms of communication can be unambiguously associated with the correct gene. These guidelines, therefore, are intended to aid the scientific community as a whole to use genetic information.
Other, secondary, functions of nomenclature for genes are to:
identify the gene as a member of a family, which may give further information about the gene by reference to other family members
identify the gene as the ortholog of a gene in another mammal (usually human)