Gene entry
CHRNA1
cholinergic receptor nicotinic alpha 1 subunit
- Chromosome
- 2
- Cytoband
- 2q31.1
- Variants (rsID)
- 13
CHRNA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q31.1). Its official name is “cholinergic receptor nicotinic alpha 1 subunit”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs1376865Benignsingle nucleotide variant
- rs148304857Benignsingle nucleotide variantCongenital myasthenic syndrome|Lethal multiple pterygium syndrome
- rs16862847Benignsingle nucleotide variantLethal multiple pterygium syndrome
- rs61737716Benignsingle nucleotide variantCongenital myasthenic syndrome|Lethal multiple pterygium syndrome
- rs150638770Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome|Lethal multiple pterygium syndrome
- rs137852805Pathogenicsingle nucleotide variantMyasthenic syndrome, congenital, 1B, fast-channel
- rs137852807Pathogenicsingle nucleotide variantMyasthenic syndrome, congenital, 1B, fast-channel
- rs137852808Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 1A
- rs137852809Pathogenicsingle nucleotide variantLethal multiple pterygium syndrome
- rs137852799Uncertain significancesingle nucleotide variantCongenital myasthenic syndrome 1A|Lethal multiple pterygium syndrome
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.