Genomic variant #0001955542

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18598060G>C
Reference Copied from the Exome Variant Server
DB-ID CDKL5_000036
Frequency 1/10561
Freq. EA 1/6726
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.375G>C r.(?) p.(Trp125Cys)