Genomic variant #0001955575

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18622495_18622500del
Reference Copied from the Exome Variant Server
DB-ID CDKL5_000069
Frequency 1/10205
Freq. EA 1/6484
Freq. AA 0/3721
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CDKL5 NM_003159.2 ?/? c.1451_1456del r.(?) p.(Ala486_Lys487del)