Variant (rsID / SNP)

rs104894928

rs104894928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDKL5, RS1. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CDKL5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.13
HGVS: NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
Allele change: Silent

Associated conditions / phenotypes

Juvenile retinoschisis|Retinal dystrophy

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.