Variant #0000179016 (NC_000023.10:g.41712473del, NM_003688.3:c.68del (CASK))
Individual ID |
00111393 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41712473del |
DNA change (hg38) |
g.41853220del |
Published as |
- |
ISCN |
- |
DB-ID |
CASK_000020 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Bernt Popp |
Database submission license |
No license selected |
Created by |
Bernt Popp |
Date created |
2017-08-03 00:41:28 +02:00 (CEST) |
Date last edited |
2020-07-19 19:28:26 +02:00 (CEST) |

Variant on transcripts
Screenings
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