Variant (rsID / SNP)

rs398124520

rs398124520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARX. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ARXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xp21.3
HGVS: NM_139058.3(ARX):c.980_983del (p.Lys327fs)

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.