Variant (rsID / SNP)
rs28935479
rs28935479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARX. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ARXConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Cytoband
- Xp21.3
- HGVS
- NM_139058.3(ARX):c.856G>A (p.Gly286Ser)
- Allele change
- Missense_G286S
Associated conditions / phenotypes
Intellectual disability, X-linked, with or without seizures, arx-related|Developmental and epileptic encephalopathy, 1|Intellectual disability, X-linked, with or without seizures, arx-related
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.