Genomic variant #0001955602

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18638015_18638016insAGC
Reference Copied from the Exome Variant Server
DB-ID CDKL5_000096
Frequency 1/10192
Freq. EA 1/6475
Freq. AA 0/3717
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CDKL5 NM_003159.2 ?/? c.2305_2306insAGC r.(?) p.(Gln770dup)