Variant level:
We follow the HGVS recommendations for variant description and use HGNC gene symbols. The DVD defaults to the GRCh38 assembly while also supporting searches by GRCh37. When relevant, we display both genome and transcript-based notations to reduce ambiguity.
Variant Level
Genomic (g.): assembly + coordinate levelg. is least error-prone and unambiguous across transcripts.
Example: GRCh38 13:20763071 A>G
cDNA (c.): transcript-relative HGVS
c. provides exon/intron context but depends on the chosen transcript.
Example: NM_004004.6:c.35delG
Protein (p.): predicted effect
p. conveys functional impact at the protein level.
Example: p.(Val12fs) or p.Val26Met
Gene Level
Primary labels use HGNC-approved symbols.
Common historical symbols are listed as synonyms on gene pages (e.g., ADGRV1 (GPR98), DFNB31 (WHRN), DFNB59 (PJVK)).
When HGNC updates a symbol, we retain prior symbols for search and display the current symbol as the primary.
Transcripts
For each gene, DVD uses the MORL-curated deafness-relevant transcript as the primary reference for cDNA (c.) and protein (p.) notation. When an MORL-curated transcript has not been established, we default to MANE Select (or MANE Plus Clinical when clinically more appropriate).
All c./p. strings include versioned accessions (e.g., NM_004004.6) for reproducibility.
Phenotypes
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 phenotype nomenclature to corresponding OMIM names is ongoing.