Variant #0000004183 (NC_000023.10:g.18638082A>C, CDKL5(NM_003159.2):c.2372A>C)
Individual ID |
00004183 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18638082A>C |
Reference |
Evans JC1, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ.(2005) |
DB-ID |
CDKL5_000037 See all 2 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
0.03131 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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