All variants in the EFTUD2 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/+ 18 c.1732C>T r.(?) p.Arg578* - pathogenic g.42937401G>A g.44860033G>A - - EFTUD2_000062 - Huang et al. 2015 - - De novo - - - 0 - Dennis E. Bulman
+/+ 18 c.1732C>T r.(?) p.Arg578* - pathogenic g.42937401G>A g.44860033G>A - - EFTUD2_000062 proband inherited this variant from the affected mother, in whom the variant arose de novo Huang et al. 2015 - - Germline - - - 0 - Dennis E. Bulman
+/+ 18 c.1732C>T r.(?) p.Arg578* - pathogenic g.42937401G>A g.44860033G>A - - EFTUD2_000062 - PubMed: Sarkar et al. - - De novo - - - 0 - Dennis E. Bulman
+/. - c.1732C>T r.(?) p.(Arg578Ter) - pathogenic g.42937401G>A g.44860033G>A - - EFTUD2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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