Gene entry
ASXL1
ASXL transcriptional regulator 1
- Chromosome
- 20
- Cytoband
- 20q11.21
- Variants (rsID)
- 14
ASXL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q11.21). Its official name is “ASXL transcriptional regulator 1”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs139115934Benignsingle nucleotide variantBohring-Opitz syndrome
- rs35632616Benignsingle nucleotide variantBohring-Opitz syndrome
- rs373145711Pathogenicsingle nucleotide variantBohring-Opitz syndrome|10 conditions|dystrophia|Developmental delay|Myelodysplastic syndrome
- rs397515401Pathogenicsingle nucleotide variantBohring-Opitz 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.