All variants in the EFTUD2 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/? 16 c.1435dup r.(?) p.(Thr479Asnfs*2) - likely pathogenic g.42940253dup g.44862885dup - - EFTUD2_000042 - Lehalle et al 2014 - - Unknown - - - 0 - Christopher Gordon
+/+ 16 c.1435dup r.(?) p.Thr479Asnfs*2 - pathogenic g.42940253dup g.44862885dup - - EFTUD2_000042 - PubMed: Smigiel et al. - - De novo - - - 0 - Dennis E. Bulman
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