Variant (rsID / SNP)

rs104894780

rs104894780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCX. Clinical significance in the table: Pathogenic.

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Reference-table entries

DCXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_001195553.2(DCX):c.574C>T (p.Arg192Trp)
Allele change: Missense_R192W

Associated conditions / phenotypes

Subcortical laminar heterotopia, X-linked|Lissencephaly type 1 due to doublecortin gene mutation|Heterotopia

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.