Variant #0000004196 (NC_000023.10:g.18622719C>T, CDKL5(NM_003159.2):c.1675C>T)

Individual ID 00004196
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.18622719C>T
Reference Sartori S1, Di Rosa G, Polli R, Bettella E, Tricomi G, Tortorella G, Murgia A.(2009)
DB-ID CDKL5_000042
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
Options




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.1675C>T r.(?) p.(Arg559*) 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     
0000004196 ? ? CDKL5 1 Y Yang