Variant #0000004278 (NC_000023.10:g.18622419C>T, CDKL5(NM_003159.2):c.1375C>T)
Individual ID |
00004278 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18622419C>T |
Reference |
Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014) |
DB-ID |
CDKL5_000053 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
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