Examples - 13:20763071:T>C, 13:20763044, 13:20763045-20763071



For each variant, we provide the genomic (G dot), protein (P dot) and cDNA (C dot) notations. The G dot notation is less error prone than either P or C dot, although it does not provide contextual clues about a variant. The P dot notation provides some idea of what is happening at the functional level. Note that that C dot notation can often introduce ambiguity without adding much informative content. A description of variant notation is found here.


HGNC gene symbols are utilized for primary labeling. In some cases, a prior, commonly utilized gene symbol will appear after the current HGNC-approved gene symbol. These include: ADGRV1 (GPR98), DFNB31 (WHRN) and DFNB59 (PJVK).


When possible, phenotypic standard names derived from OMIM have been utilized. In some instances, no appropriate phenotype is available in OMIM; phenotype name style is then preserved. Non-deafness-related phenotypes that are not available in OMIM are presented as formatted by available sources. Conversion of our phenotype nomenclature to corresponding OMIM names is ongoing.