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) |

Variant on transcripts
Screenings
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