Gene entry
AAAS
aladin WD repeat nucleoporin
- Chromosome
- 12
- Cytoband
- 12q13.13
- Variants (rsID)
- 9
AAAS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.13). Its official name is “aladin WD repeat nucleoporin”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs112579822Conflicting interpretationssingle nucleotide variantGlucocorticoid deficiency with achalasia
- rs80027466Conflicting interpretationssingle nucleotide variantGlucocorticoid deficiency with achalasia
- rs121918548Pathogenicsingle nucleotide variantGlucocorticoid deficiency with achalasia|Neurodevelopmental disorder
- rs121918549Pathogenicsingle nucleotide variantGlucocorticoid deficiency with achalasia
- rs121918550Pathogenicsingle nucleotide variantGlucocorticoid deficiency with achalasia|Spastic paraparesis|Hyperreflexia|Babinski sign|Inborn genetic diseases
- rs121918551Pathogenicsingle nucleotide variantGlucocorticoid deficiency with achalasia
- rs150511103Pathogenicsingle nucleotide variantGlucocorticoid deficiency with achalasia
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.