Gene entry
PCDH19
protocadherin 19
- Chromosome
- X
- Cytoband
- Xq22.1
- Variants (rsID)
- 31
PCDH19 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq22.1). Its official name is “protocadherin 19”. The reference table lists 31 variants (rsID) for this gene.
Clinically classified variants
15 reference-table entries with clinical significance.
- rs16983426Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 9
- rs1953337Benignsingle nucleotide variantDevelopmental and epileptic encephalopathy, 9|History of neurodevelopmental disorder
- rs191333060Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 9|Childhood epilepsy with centrotemporal spikes|History of neurodevelopmental disorder
- rs192354176Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 9|History of neurodevelopmental disorder
- rs201713027Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 9
- rs372006606Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 9
- rs61742914Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 9
- rs773740606Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 9
- rs774555485Conflicting interpretationssingle nucleotide variantDevelopmental and epileptic encephalopathy, 9
- rs267606933Likely pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 9
- rs1060502176Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 9
- rs132630323Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 9
- rs132630325Pathogenicsingle nucleotide variantDevelopmental and epileptic encephalopathy, 9
- rs186554435Uncertain significancesingle nucleotide variantHistory of neurodevelopmental disorder|Developmental and epileptic encephalopathy, 9
- rs376390125Uncertain significancesingle nucleotide variantDevelopmental and epileptic encephalopathy, 9|Chorea|Paroxysmal choreoathetosis|Sleep disturbance|Choreoathetosis|Paroxysmal dyskinesia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.