Table 7.

Notable GJB6 Pathogenic Variants

Reference SequencesDNA
Nuclotide
Change		Predicted
Protein
Change		Comment [References]
NM_006783​.4

NP_006774​.2

c.31G>Ap.Gly11ArgFound in persons of French, French-Canadian, African, Spanish, Scottish-Irish, & Chinese ancestry [Lamartine et al 2000a, Zhang et al 2003, Chen et al 2010, Hu et al 2015, Pietrzak et al 2016, Khatter et al 2019]
c.263C>Tp.Ala88ValFound in persons of Indian, Malaysian, Chinese, Japanese, & Russian ancestry [Lamartine et al 2000a, Lamartine et al 2000b, van Steensel et al 2003, Marakhonov et al 2012, Sugiura et al 2013, Yang et al 2016, Zhan et al 2020]
c.110T>Ap.Val37GluFound in a simplex case (i.e., a single affected person in a family) of Scottish ancestry [Smith et al 2002]
c.148G>Ap.Asp50AsnAffects the first extracellular loop of the connexin 30 molecule; identified in a person of Scottish background [Smith et al 2002]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

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