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     
+?/. 7 c.600_601dup r.(?) p.(Thr201Ilefs*21) ACMG likely pathogenic (dominant) g.41202525_41202526dup - - - DDX3X_000114 ACMG: PVS1, PM2, class 4; suspected de novo, segregation/ de novo status not analysed yet - - - Germline ? - - 0 - Andreas Laner
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