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     
?/? 19i_28 c.1963-?_(*987_?)del r.del p.? - pathogenic g.42923423_42934526del g.44846055_44857158del - - EFTUD2_000080 46,XY; chr17:42923422_42935059X1 on microarray PubMed: Lines 2012 - - De novo - - - 0 - Dennis E. Bulman
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