Variant (rsID / SNP)

rs587783569

rs587783569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCX. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

DCXLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_001195553.2(DCX):c.596T>C (p.Leu199Pro)
Allele change: Missense_L199P

Associated conditions / phenotypes

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.