Assessment of pathogenicity of novel variants is a primary task for molecular diagnostics of hereditary diseases. Mutations in gene GJB2 encoding transmembrane protein Cx26 are the common cause for hearing loss worldwide. We present a complex assessment of pathogenicity of novel non-synonymous variant c.516G>C (p.Trp172Cys) in GJB2 found with high frequency in deaf patients belonging to indigenous peoples of Southern Siberia (Tuvinians and Altaians).
|Number of pages||2|
|Journal||European journal of human genetics|
|Issue number||Suppl 1|
|Publication status||Published - 1 Dec 2020|
|Event||53rd Conference of the European-Society-of-Human-Genetics (ESHG) - Virtual Conference|
Duration: 6 Jun 2020 → 9 Jun 2020
Conference number: 53