Gene entry
SIM1
SIM bHLH transcription factor 1
- Chromosome
- 6
- Cytoband
- 6q16.3
- Variants (rsID)
- 27
SIM1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q16.3). Its official name is “SIM bHLH transcription factor 1”. The reference table lists 27 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs146866401Benignsingle nucleotide variantOromandibular-limb hypogenesis spectrum|Obesity due to SIM1 deficiency
- rs3734353Benignsingle nucleotide variantObesity due to SIM1 deficiency
- rs74726213Uncertain significancesingle nucleotide variantOromandibular-limb hypogenesis spectrum|Obesity due to SIM1 deficiency|Monogenic diabetes
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.