Variant (rsID / SNP)

rs61753251

rs61753251 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDKL5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Cytoband: Xp22.13
HGVS: NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 2|Atypical Rett syndrome|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.