Uncertain

HGVS recommendations also contain suggestions to describe variants for which not all details are available. Missing details may include unsequenced deletion breakpoints (e.g. detected using FISH, a SNP-array or an MLP assay), variants reported on the protein level only or variants that probably affect RNA splicing but RNA was not available for analysis. This page summarises how to describe variants when not all information is available.


Characters used


Examples

DNA


RNA


protein