Variant (rsID / SNP)

rs56030372

rs56030372 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.587G>A (p.Arg196His)
Allele change: Missense_R196H

Associated conditions / phenotypes

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

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.