Gene entry
GJA1
gap junction protein alpha 1
- Chromosome
- 6
- Cytoband
- 6q22.31
- Variants (rsID)
- 8
GJA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q22.31). Its official name is “gap junction protein alpha 1”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs57946868Benignsingle nucleotide variantSyndactyly type 3|Oculodentodigital dysplasia|Hypoplastic left heart syndrome 1|Oculodentodigital dysplasia, autosomal recessive
- rs104893965Conflicting interpretationssingle nucleotide variantAtrioventricular septal defect 3|Hypoplastic left heart syndrome 1|Oculodentodigital dysplasia, autosomal recessive|Syndactyly type 3|Oculodentodigital dysplasia
- rs2227885Conflicting interpretationssingle nucleotide variantHypoplastic left heart syndrome 1|Atrioventricular septal defect 3|Oculodentodigital dysplasia, autosomal recessive
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.