Variant (rsID / SNP)

rs267608437

rs267608437 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CDKL5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
Allele change: Missense_L67F

Associated conditions / phenotypes

Rett syndrome|Developmental and epileptic encephalopathy, 2|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like

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.