Variant (rsID / SNP)

rs35478150

rs35478150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5. Clinical significance in the table: Benign.

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Reference-table entries

CDKL5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro)
Allele change: Missense_Q791P

Associated conditions / phenotypes

Angelman syndrome-like|Developmental and epileptic encephalopathy, 2|History of neurodevelopmental disorder|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.