Variant (rsID / SNP)

rs1060502176

rs1060502176 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH19. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PCDH19Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg)
Allele change: Missense_P236R

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.