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     
+/. _1_28_ c.0 r.0 p.0 - pathogenic g.(42600000_42778736)_(4323333_43500000)del - - - EFTUD2_000000 probably de novo; deletion between 0.435 and 0.475 Mb PubMed: Gandoni 2015, Journal: Gandoni 2015 - - Unknown - - - 0 - Dennis E. Bulman
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