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.577G>T r.(?) p.(Gly193*) - pathogenic g.41202502G>T g.41343249G>T NM_001193417.2:c.529G>T - DDX3X_000107 RNA expression only reference allele PubMed: Fieremans 2016 - - De novo - - - 0 skewed X-inactivation (92:8 pat:mat) Johan den Dunnen
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