Variant (rsID / SNP)

rs104894741

rs104894741 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.1028T>A (p.Leu343Gln)
Allele change: Missense_L343Q

Associated conditions / phenotypes

X-linked lissencephaly with abnormal genitalia

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.