Gene entry
GJB3
gap junction protein beta 3
- Chromosome
- 1
- Cytoband
- 1p34.3
- Variants (rsID)
- 10
GJB3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p34.3). Its official name is “gap junction protein beta 3”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs117385606Benignsingle nucleotide variantDeafness, digenic, GJB2/GJB3|Erythrokeratodermia variabilis et progressiva 1
- rs1805063Benignsingle nucleotide variantErythrokeratodermia variabilis et progressiva 1
- rs41310442Benignsingle nucleotide variantErythrokeratodermia variabilis et progressiva 1|Autosomal dominant nonsyndromic hearing loss 2B
- rs80297119Benignsingle nucleotide variantErythrokeratodermia variabilis et progressiva 1
- rs74315318Conflicting interpretationssingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 2B|Erythrokeratodermia variabilis et progressiva 1
- rs74315317Pathogenicsingle nucleotide variantErythrokeratodermia variabilis et progressiva 1
- rs74315319Uncertain significancesingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 2B
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.