Variant (rsID / SNP)

rs587783568

rs587783568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCX. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DCXPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_001195553.2(DCX):c.586C>T (p.Arg196Cys)
Allele change: Missense_R196G

Associated conditions / phenotypes

Heterotopia|Lissencephaly type 1 due to doublecortin gene mutation

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.