Variant (rsID / SNP)

rs132630325

rs132630325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH19. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCDH19Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter)
Allele change: Nonsense_S671X

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 9

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.