Variant #0001011151 (NC_000023.10:g.41203570C>A, NM_001356.3:c.943C>A (DDX3X))
Individual ID |
00453124 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41203570C>A |
DNA change (hg38) |
g.41344317C>A |
Published as |
- |
ISCN |
- |
DB-ID |
DDX3X_000127 See all 2 reported entries |
Variant remarks |
variant de novo in mother |
Reference |
PubMed: Rots 2024, Journal: Rots 2024 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2024-10-02 20:00:29 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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