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Gene entry

GJB6

gap junction protein beta 6

Chromosome
13
Cytoband
13q12.11
Variants (rsID)
8

GJB6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q12.11). Its official name is “gap junction protein beta 6”. The reference table lists 8 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs111033338Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal dominant nonsyndromic hearing loss 3B|Hidrotic ectodermal dysplasia syndrome|Hidrotic ectodermal dysplasia syndrome
  • rs150075979Conflicting interpretationssingle nucleotide variantHidrotic ectodermal dysplasia syndrome|Autosomal dominant nonsyndromic hearing loss 3B|Autosomal recessive nonsyndromic hearing loss 1A|Hidrotic ectodermal dysplasia syndrome|Autosomal recessive nonsyndromic hearing loss 1B
  • rs35002004Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal dominant nonsyndromic hearing loss 3B|Hidrotic ectodermal dysplasia syndrome|Hidrotic ectodermal dysplasia syndrome
  • rs398124237Conflicting interpretationsDuplicationAutosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal dominant nonsyndromic hearing loss 3B|Hidrotic ectodermal dysplasia syndrome
  • rs770612890Conflicting interpretationsDeletionGJB6-related disorders|Hidrotic ectodermal dysplasia syndrome|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal dominant nonsyndromic hearing loss 3B|Hidrotic ectodermal dysplasia syndrome|Autosomal recessive nonsyndromic hearing loss 1A
  • rs104894415Pathogenicsingle nucleotide variantHidrotic ectodermal dysplasia syndrome|Autosomal dominant nonsyndromic hearing loss 3B|Autosomal recessive nonsyndromic hearing loss 1A|Hidrotic ectodermal dysplasia syndrome|Autosomal recessive nonsyndromic hearing loss 1B|X-linked mixed hearing loss with perilymphatic gusher|Autosomal dominant nonsyndromic hearing loss 3B|Autosomal recessive nonsyndromic hearing loss 1A|Hidrotic ectodermal dysplasia syndrome|Autosomal recessive nonsyndromic hearing loss 1B

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.