Variant (rsID / SNP)

rs1953337

rs1953337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH19. Clinical significance in the table: Benign.

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Reference-table entries

PCDH19Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
Allele change: Synonymous_L543L

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 9|History of neurodevelopmental disorder

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.