Variant (rsID / SNP)

rs267608665

rs267608665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5, RS1. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CDKL5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_000330.4(RS1):c.185-3188G>A
Allele change: Nonsense_R970X

Associated conditions / phenotypes

Atypical Rett syndrome|Developmental and epileptic encephalopathy, 2|Angelman syndrome-like|CDKL5 disorder

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.