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     
+/+ 14 c.1172_1179del r.(?) p.(Ser391Thrfs*57) - pathogenic g.42942407_42942414del g.44865039_44865046del = - EFTUD2_000002 - PubMed: Lines et al. 2012 - - De novo yes - - 0 - Johan den Dunnen
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