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
Date created 2010-10-24 14:36:15 +02:00 (CEST)
Date last edited 2011-06-17 18:13:07 +02:00 (CEST)
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