Variant (rsID / SNP)

rs186554435

rs186554435 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCDH19. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.3437T>C (p.Ile1146Thr)
Allele change: Missense_I1098T

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.