Variant #0000004177 (NC_000023.10:g.18606055C>G, CDKL5(NM_003159.2):c.555-19C>G)
Individual ID |
00004177 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18606055C>G |
Reference |
Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006) |
DB-ID |
CDKL5_000055 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.03226 View details |
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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