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rs786204983

From SNPedia

ClinVar
Risk rs786204983(;)
Alt rs786204983(;)
Reference rs786204983(TTAGAATATGC;TTAGAATATGC)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Variation info
Gene CDKL5
CLNDBN Early infantile epileptic encephalopathy 2 Atypical Rett syndrome
Reversed 0
HGVS NC_000023.10:g.18597965_18597975delTAGAATATGCT
CLNSRC RettBASE (CDKL5)
CLNACC RCV000170036.1, RCV000170037.1,