Gene entry
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
- Chromosome
- X
- Cytoband
- Xq23
- Variants (rsID)
- 8
ALG13 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq23). Its official name is “ALG13 UDP-N-acetylglucosaminyltransferase subunit”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs146925326Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 36
- rs200293248Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 36
- rs201820102Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 36
- rs773401427Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 36
- rs189931917Likely benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 36
- rs398122394Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 36|Rare genetic intellectual disability|Intellectual disability|Seizure|Neurodevelopmental delay|Hypotonia|Seizure|Microcephaly
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.