All variants in the EFTUD2 gene

Information The variants shown are described using the NM_004247.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/+ 10 c.784C>T r.(?) p.(Arg262Trp) - pathogenic g.42953387G>A g.44876019G>A = - EFTUD2_000003 - PubMed: Lines et al. 2012 - - De novo - - - 0 - Dennis E. Bulman
+/+ 10 c.784C>T r.(?) p.Arg262Trp - pathogenic g.42953387G>A g.44876019G>A - - EFTUD2_000003 - Huang et al. 2015 - - Unknown - - - 0 - Dennis E. Bulman
+/+? 10 c.784C>T r.(?) p.Arg262Trp - pathogenic g.42953387G>A g.44876019G>A - - EFTUD2_000003 - PubMed: Smigiel et al. - - De novo - - - 0 - Dennis E. Bulman
+/. - c.784C>T r.(?) p.(Arg262Trp) - pathogenic g.42953387G>A g.44876019G>A EFTUD2(NM_001258353.1):c.784C>T (p.R262W) - EFTUD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.784C>T r.(?) p.(Arg262Trp) - pathogenic g.42953387G>A - EFTUD2(NM_001258353.1):c.784C>T (p.R262W) - EFTUD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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