Variant (rsID / SNP)

rs794727656

rs794727656 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.

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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.1269C>T (p.His423=)
Allele change: Synonymous_H423H

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 1|Intellectual disability, X-linked, with or without seizures, arx-related|History of neurodevelopmental disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.