Variant #0000455091 (NC_000023.10:g.41205602_41205605delinsTCTC, DDX3X(NM_001356.3):c.1436_1439delinsTCTC)

Individual ID 00219102
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.41205602_41205605delinsTCTC
DNA change (hg38) g.41346349_41346352delinsTCTC
Published as -
ISCN -
DB-ID DDX3X_000045
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Annalaura Torella
Database submission license No license selected
Created by Annalaura Torella
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDX3X NM_001356.3 +/. 13 c.1436_1439delinsTCTC r.(?) p.(Asp479_Arg480delinsValSer)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220173 DNA SEQ-NG-I - WES (whole exome sequencing) - 1 Annalaura Torella