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     
+?/+? 16 c.1496G>A r.(?) p.Gly499Asp - likely pathogenic g.42940192C>T g.44862824C>T - - EFTUD2_000061 proband inherited the variant from her affected mother, in whom the variant arose de novo Huang et al. 2015 - - Germline - - - 0 - Dennis E. Bulman
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