Gene entry
ARX
aristaless related homeobox
- Chromosome
- X
- Cytoband
- Xp21.3
- Variants (rsID)
- 12
ARX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp21.3). Its official name is “aristaless related homeobox”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs190910161Conflicting interpretationssingle nucleotide variantIntellectual disability, X-linked, with or without seizures, arx-related|Developmental and epileptic encephalopathy, 1|History of neurodevelopmental disorder
- rs28935479Conflicting interpretationssingle nucleotide variantIntellectual disability, X-linked, with or without seizures, arx-related|Developmental and epileptic encephalopathy, 1|Intellectual disability, X-linked, with or without seizures, arx-related
- rs794727656Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 1|Intellectual disability, X-linked, with or without seizures, arx-related|History of neurodevelopmental disorder
- rs104894741Pathogenicsingle nucleotide variantX-linked lissencephaly with abnormal genitalia
- rs104894745Pathogenicsingle nucleotide variantCorpus callosum agenesis-abnormal genitalia syndrome
- rs104894746Pathogenicsingle nucleotide variantHydranencephaly with abnormal genitalia
- rs111033612Pathogenicsingle nucleotide variantX-linked lissencephaly with abnormal genitalia
- rs387906715Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 1
- rs398124520PathogenicDeletion
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.