Full data view for gene DDX3X

Information The variants shown are described using the NM_001356.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 13 c.1463G>A r.(?) p.(Arg488His) Unknown - pathogenic (dominant) g.41205629G>A g.41346376G>A - - DDX3X_000022 - PubMed: Snijders-Blok 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ID 26235985-Ind28 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.1463G>A r.(?) p.(Arg488His) Unknown - likely pathogenic g.41205629G>A - DDX3X(NM_001356.4):c.1463G>A (p.R488H) - DDX3X_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query