Genomic variant #0001955514

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18528902T>C
Reference Copied from the Exome Variant Server
DB-ID CDKL5_000008
Frequency 5/10562
Freq. EA 0/6727
Freq. AA 5/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CDKL5 NM_003159.2 ?/? c.65-38T>C r.(=) p.(=)