Variant #0000455180 (NC_000023.10:g.41203014T>C, DDX3X(NM_001356.3):c.704T>C)

Individual ID 00219157
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41203014T>C
DNA change (hg38) g.41343761T>C
Published as -
ISCN -
DB-ID DDX3X_000054
Variant remarks -
Reference PubMed: Snijders-Blok 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
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 +/. 8 c.704T>C r.(?) p.(Leu235Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220228 DNA SEQ;SEQ-NG - WES DDX3X 1 Johan den Dunnen