Genomic variant #0001955536

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18597924G>A
Reference Copied from the Exome Variant Server
DB-ID CDKL5_000030
Frequency 1/10560
Freq. EA 1/6725
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CDKL5 NM_003159.2 ?/? c.283-44G>A r.(=) p.(=)