All variants in the DDX3X gene

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

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.1597_1601dup r.(?) p.(Val535AspfsTer3) - pathogenic g.41205857_41205861dup g.41346604_41346608dup DDX3X(NM_001356.4):c.1597_1601dupGGACG (p.V535Dfs*3) - DDX3X_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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