Gene entry
BFSP1
beaded filament structural protein 1
- Chromosome
- 20
- Cytoband
- 20p12.1
- Variants (rsID)
- 36
BFSP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p12.1). Its official name is “beaded filament structural protein 1”. The reference table lists 36 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs139124891Benignsingle nucleotide variantCataract 33
- rs6080717Benignsingle nucleotide variantCataract 33
- rs148119487Likely benignsingle nucleotide variantCataract 33
- rs147718368Uncertain significancesingle nucleotide variantCataract 33
Other listed variants
- rs201928
- rs2023508
- rs2023509
- rs2269037
- rs2269047
- rs2269051
- rs6034836
- rs6034849
- rs6044868
- rs6080726
- rs6111549
- rs6136119
- rs6136120
- rs16999404
- rs17780180
- rs56884737
- rs74488569
- rs74563989
- rs75190333
- rs75225013
- rs75910460
- rs76607515
- rs76673557
- rs77881374
- rs78115630
- rs78903141
- rs79923008
- rs113459439
- rs117248605
- rs117275090
- rs151173407
- rs571996643
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.