All variants in the DDX3X gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 11 c.1084C>T r.(?) p.(Arg362Cys) - pathogenic (recessive) g.41204491C>T g.41345238C>T - - DDX3X_000059 - PubMed: Snijders-Blok 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.1084C>T r.(?) p.(Arg362Cys) ACMG pathogenic (recessive) g.41204491C>T g.41345238C>T - - DDX3X_000059 - PubMed: Hu 2019 - - Germline - - - 0 - Johan den Dunnen
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