Variant (rsID / SNP)

rs387906715

rs387906715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARX. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.3
HGVS: NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)
Allele change: Missense_L535Q

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 1

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.