Gene entry
ADSL
adenylosuccinate lyase
- Chromosome
- 22
- Cytoband
- 22q13.1
- Variants (rsID)
- 24
ADSL is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q13.1). Its official name is “adenylosuccinate lyase”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
18 reference-table entries with clinical significance.
- rs2228415Benignsingle nucleotide variantAdenylosuccinate lyase deficiency
- rs8192461Benignsingle nucleotide variantAdenylosuccinate lyase deficiency
- rs143083947Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs143977255Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs148411623Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs181628906Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs192303222Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs199993991Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs201509960Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs28941471Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs34396910Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs780425464Conflicting interpretationssingle nucleotide variantAdenylosuccinate lyase deficiency
- rs372895468Likely pathogenicsingle nucleotide variantAdenylosuccinate lyase deficiency
- rs119450941Pathogenicsingle nucleotide variantAdenylosuccinate lyase deficiency
- rs119450942Pathogenicsingle nucleotide variantAdenylosuccinate lyase deficiency
- rs374259530Pathogenicsingle nucleotide variantAdenylosuccinate lyase deficiency|Progressive neurologic deterioration|Inability to walk|Generalized myoclonic seizure|Difficulty standing|Severe global developmental delay
- rs756210458Pathogenicsingle nucleotide variantGeneralized myoclonic seizure|Progressive neurologic deterioration|Severe global developmental delay|Inability to walk|Difficulty standing|Adenylosuccinate lyase deficiency
- rs119450943Uncertain significancesingle nucleotide variantAdenylosuccinate lyase deficiency
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.