Variant (rsID / SNP)

rs267608418

rs267608418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CDKL5Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)
Allele change: Missense_G20R

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.