Gene entry
CHRNB1
cholinergic receptor nicotinic beta 1 subunit
- Chromosome
- 17
- Cytoband
- 17p13.1
- Variants (rsID)
- 13
CHRNB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.1). Its official name is “cholinergic receptor nicotinic beta 1 subunit”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs2302764Benignsingle nucleotide variantCongenital myasthenic syndrome 4C
- rs202144045Conflicting interpretationssingle nucleotide variantCongenital myasthenic syndrome 4C|Congenital myasthenic syndrome 2A
- rs199903026Likely benignsingle nucleotide variantCongenital myasthenic syndrome 4C
- rs200684767Likely benignsingle nucleotide variantCongenital myasthenic syndrome 2A
- rs199875082Pathogenicsingle nucleotide variantCongenital myasthenic syndrome 2A
- rs140556296Uncertain significancesingle nucleotide variant
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.