All variants in the EFTUD2 gene

Information The variants shown are described using the NM_004247.3 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     
+/+ 4 c.272-9_282del r.272_350del p.Glu91Valfs*6 - pathogenic g.42962694_42962713del g.44885326_44885345del - - EFTUD2_000055 - Huang et al. 2015 - - Unknown - - - 0 - Dennis E. Bulman
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