Variant (rsID / SNP)

rs16983426

rs16983426 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.3018C>T (p.Asp1006=)
Allele change: Synonymous_D958D

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.