Variant #0000184818 (NC_000023.10:g.21861384_21861385del, CDKL5(NM_003159.2):c.145+27_145+28del)

Individual ID 00114921
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.21861384_21861385del
DNA change (hg38) g.21843266_21843267del
Published as 145+27_28delAT
ISCN -
DB-ID CDKL5_000059 See all 7 reported entries
Variant remarks unclassified variant
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Birgit Neitzel
Database submission license No license selected
Created by Birgit Neitzel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CDKL5 NM_003159.2 ?/. 4i c.145+27_145+28del r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115388 DNA SEQ - - CDKL5 1 Lucy Raymond