Variant #0000619556 (NC_000023.10:g.41204533C>T, DDX3X(NM_001356.3):c.1126C>T)
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41204533C>T |
DNA change (hg38) |
g.41345280C>T |
Published as |
DDX3X(NM_001193416.1):c.1126C>T (p.(Arg376Cys)), DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.4):c.1126C>T (p.R376C) |
ISCN |
- |
DB-ID |
DDX3X_000002 See all 6 reported entries |
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) |
Variant not found in online data sets |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |

Variant on transcripts
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