Variant #0000004176 (NC_000023.10:g.18621972_18621980del9, CDKL5(NM_003159.2):c.978-50_978-42del9)

Individual ID 00004176
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.18621972_18621980del9
Reference Archer HL1, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J.(2006)
DB-ID CDKL5_000054
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 ./. 11i c.978-50_978-42del9 r.(=) p.(=) VariO:0141 DNA deletion -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004176 ? ? CDKL5 1 Y Yang