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_4i c.(-9700_-8742)_(350+150_351-400)del r.0? p.0? - pathogenic g.(40317000_40318000)_(40341000_40342000)del - NCBI36 chr17:40.319-40.353 Mbp del - EFTUD2_000011 >23 kb deletion PubMed: Gordon 2012, Journal: Gordon 2012 - - De novo - - - 0 - Dennis E. Bulman
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