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Variant (rsID / SNP)

rs376390125

PCDH19

rs376390125 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH19. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PCDH19Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Cytoband
Xq22.1
HGVS
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)
Allele change
Missense_R740C

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 9|Chorea|Paroxysmal choreoathetosis|Sleep disturbance|Choreoathetosis|Paroxysmal dyskinesia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.