Variant (rsID / SNP)

rs756986206

rs756986206 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.1002T>C (p.Ala334=)
Allele change: Synonymous_A334A

Associated conditions / phenotypes

History of neurodevelopmental disorder|Angelman syndrome-like|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.