Variant #0000856606 (NC_000023.10:g.41200811_41200813del, NM_001356.3:c.226_228del (DDX3X))
Chromosome |
X |
Allele |
Unknown |
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.41200811_41200813del |
DNA change (hg38) |
- |
Published as |
DDX3X(NM_001193416.3):c.226_228delAGT (p.S76del) |
ISCN |
- |
DB-ID |
DDX3X_000011 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_Groningen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Groningen |
Date created |
2022-05-09 15:47:41 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
|