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 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CDKL5 NM_003159.2 ./. 12 c.1039C>T r.(?) p.(Gln347*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004299 ? ? CDKL5 1 Y Yang