Variant #0000881124 (NC_000023.10:g.41203558C>T, NM_001356.3:c.931C>T (DDX3X))
Individual ID |
00419461 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41203558C>T |
DNA change (hg38) |
g.41344305C>T |
Published as |
NM_001193417.2:c.883C>T (Arg295Ter) |
ISCN |
- |
DB-ID |
DDX3X_000057 See all 3 reported entries |
Variant remarks |
ACMG PVS1, PM1, PM2, PP3 |
Reference |
PubMed: Marinakis 2021 |
ClinVar ID |
RCV001260602.1 |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Jan Traeger-Synodinos |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2022-10-20 16:24:48 +02:00 (CEST) |
Date last edited |
2022-10-20 16:26:51 +02:00 (CEST) |

Variant on transcripts
Screenings
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