Variant (rsID / SNP)

rs267608453

rs267608453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CDKL5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter)
Allele change: Nonsense_Q118X

Associated conditions / phenotypes

Atypical Rett syndrome

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.