Gene entry
ASNS
asparagine synthetase (glutamine-hydrolyzing)
- Chromosome
- 7
- Cytoband
- 7q21.3
- Variants (rsID)
- 14
ASNS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q21.3). Its official name is “asparagine synthetase (glutamine-hydrolyzing)”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs148111963Likely pathogenicsingle nucleotide variantCongenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- rs398122974Pathogenicsingle nucleotide variantCongenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- rs398122975Pathogenicsingle nucleotide variantCongenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
- rs754043007Pathogenicsingle nucleotide variantCongenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome|Neurodevelopmental abnormality
- rs797045307PathogenicDeletionCongenital microcephaly - severe encephalopathy - progressive cerebral atrophy 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.