Genomic variant #0001955526

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18582647_18582650del
Reference Copied from the Exome Variant Server
DB-ID CDKL5_000019
Frequency 507/6783
Freq. EA 340/4499
Freq. AA 167/2284
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CDKL5 NM_003159.2 ?/? c.145+5_145+8del r.spl? p.?