Nomenclature recommendations mainly apply to genotype descriptions in tables. Unfortunately, these are not very useful in the general text of a paper. For instance, OPRM1:c.118A>G or rs1799971:A>G can be used to describe the variant, but in a paper you might like to discuss the phenotypic consequences of different genotypes. In fact the current recommendation is to use OPRM1:c.[118A>G];[118A=] to describe a heterozygote and OPRM1:c.[118A=];[118A=] and OPRM1:c.[118>G];[118>G] for the homozygotes. I would like to suggest
to describe the genotypes in the text like;
- OPRM1:c.118AA homozygotes
- OPRM1:c.118GA heterozygotes
- OPRM1:c.118GG homozygotes
The different alleles could then be designated as the OPRM1:c.118A allele and the OPRM1:c.118G allele. In combination with variants of other genes, the genotype descriptions could be OPRM1:c.118AA, GJB2:c.76AC double heterozygotes, etc.