Variant (rsID / SNP)

rs267608561

rs267608561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5. Clinical significance in the table: Pathogenic.

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Reference-table entries

CDKL5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter)
Allele change: Nonsense_Q347X

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 2

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.