Variant #0000004277 (NC_000023.10:g.18616647_18616648insTT, CDKL5(NM_003159.2):c.891_892insTT)

Individual ID 00004277
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.18616647_18616648insTT
Reference Zhao Y, Zhang X, Bao X1, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H, Wu X.(2014)
DB-ID CDKL5_000052
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 ./. 11 c.891_892insTT r.(?) p.(Gln298Phefs*53) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004277 ? ? CDKL5 1 Y Yang