Variant #0000987864 (NC_000023.10:g.41198307_41198309del, NM_001356.3:c.122_124del (DDX3X))
Individual ID |
00451681 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41198307_41198309del |
DNA change (hg38) |
g.41339054_41339056del |
Published as |
- |
ISCN |
- |
DB-ID |
DDX3X_000146 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marketa Wayhelova |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Marketa Wayhelova |
Date created |
2024-06-28 12:23:14 +02:00 (CEST) |
Date last edited |
2024-12-03 22:23:15 +01:00 (CET) |

Variant on transcripts
Screenings
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