Variant #0000667469 (NC_000023.10:g.41202502G>T, DDX3X(NM_001356.3):c.577G>T)

Individual ID 00302946
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.41202502G>T
DNA change (hg38) g.41343249G>T
Published as NM_001193417.2:c.529G>T
ISCN -
DB-ID DDX3X_000107
Variant remarks RNA expression only reference allele
Reference PubMed: Fieremans 2016
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation skewed X-inactivation (92:8 pat:mat)
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 +/. - c.577G>T r.(?) p.(Gly193*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304071 DNA RT-PCR;SEQ;SEQ-NG - WES DDX3X 1 Johan den Dunnen