Variant #0000004299 (NC_000023.10:g.18622083C>T, CDKL5(NM_003159.2):c.1039C>T)
Individual ID |
00004299 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.18622083C>T |
Reference |
Livide G1, Patriarchi T2, Amenduni M1, Amabile S1, Yasui D3, Calcagno E4, Lo Rizzo C1, De Falco G5, Ulivieri C6, Ariani F1, Mari F7, Mencarelli MA7, Hell JW8, Renieri A7, Meloni I1.(2015) |
DB-ID |
CDKL5_000065 |
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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