Gene entry
GJB4
gap junction protein beta 4
- Chromosome
- 1
- Cytoband
- 1p34.3
- Variants (rsID)
- 16
GJB4 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 4”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs3738346Benignsingle nucleotide variant
- rs146378222Conflicting interpretationssingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A
- rs80358210Pathogenicsingle nucleotide variantErythrokeratodermia variabilis et progressiva 2
- rs80358212Uncertain significancesingle nucleotide variantErythrokeratodermia variabilis et progressiva 2
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.