Full data view for gene DDX3X

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
./. - c.1126C>T r.(?) p.(Arg376Cys) Unknown - pathogenic g.41204533C>T g.41345280C>T - - DDX3X_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. 11 c.1126C>T r.(?) p.(Arg376Cys) Unknown - pathogenic (dominant) g.41204533C>T g.41345280C>T - - DDX3X_000002 - PubMed: Snijders-Blok 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ID 26235985-Ind1 PubMed: Snijders-Blok 2015 - F - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 11 c.1126C>T r.(?) p.(Arg376Cys) Unknown - pathogenic (dominant) g.41204533C>T g.41345280C>T - - DDX3X_000002 - PubMed: Snijders-Blok 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ID 26235985-Ind29 PubMed: Snijders-Blok 2015 - F - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1126C>T r.(?) p.(Arg376Cys) Unknown - pathogenic g.41204533C>T g.41345280C>T DDX3X(NM_001193416.1):c.1126C>T (p.(Arg376Cys)), DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.4):c.1126C>T (p.R376C) - DDX3X_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1126C>T r.(?) p.(Arg376Cys) Unknown - likely pathogenic g.41204533C>T - DDX3X(NM_001193416.1):c.1126C>T (p.(Arg376Cys)), DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.4):c.1126C>T (p.R376C) - DDX3X_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1126C>T r.(?) p.(Arg376Cys) Unknown - pathogenic g.41204533C>T - DDX3X(NM_001193416.1):c.1126C>T (p.(Arg376Cys)), DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.4):c.1126C>T (p.R376C) - DDX3X_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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