Gene entry
SCNN1A
sodium channel epithelial 1 subunit alpha
- Chromosome
- 12
- Cytoband
- 12p13.31
- Variants (rsID)
- 29
SCNN1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p13.31). Its official name is “sodium channel epithelial 1 subunit alpha”. The reference table lists 29 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs11542844Benignsingle nucleotide variantBronchiectasis with or without elevated sweat chloride 2|Autosomal recessive pseudohypoaldosteronism type 1
- rs5742912Benignsingle nucleotide variantBronchiectasis with or without elevated sweat chloride 2|Autosomal recessive pseudohypoaldosteronism type 1
- rs148749888Conflicting interpretationssingle nucleotide variantAutosomal recessive pseudohypoaldosteronism type 1|Bronchiectasis with or without elevated sweat chloride 2
- rs72657550Conflicting interpretationssingle nucleotide variantBronchiectasis with or without elevated sweat chloride 2|Autosomal recessive pseudohypoaldosteronism type 1
- rs137852635Pathogenicsingle nucleotide variantAutosomal recessive pseudohypoaldosteronism type 1
- rs146177203Uncertain significancesingle nucleotide variant
- rs181065138Uncertain significancesingle nucleotide variantAutosomal recessive pseudohypoaldosteronism type 1|Bronchiectasis with or without elevated sweat chloride 2
- rs61759861Uncertain significancesingle nucleotide variantBronchiectasis with or without elevated sweat chloride 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.