Genomic variant #0001955522

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.18566904C>T
Reference Copied from the Exome Variant Server
DB-ID CDKL5_000016
Frequency 4/3600
Freq. EA 2/2391
Freq. AA 2/1209
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CDKL5 NM_003159.2 ?/? c.100-15693C>T r.(=) p.(=)