Variant #0000455194 (NC_000023.10:g.41204459G>A, DDX3X(NM_001356.3):c.1052G>A)

Individual ID 00219171
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41204459G>A
DNA change (hg38) g.41345206G>A
Published as -
ISCN -
DB-ID DDX3X_000048
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDX3X NM_001356.3 +/. 11 c.1052G>A r.(?) p.(Arg351Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220242 DNA SEQ;SEQ-NG - WES DDX3X 1 Johan den Dunnen