All variants in the EFTUD2 gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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_3i c.(-21750_-20742)_(271+479_272-1)del r.0? p.0? - pathogenic g.(40318000_40319000)_(40353000_40354000)del - NCBI36 40319000_40353000del - EFTUD2_000012 ˜34 kb deletion PubMed: Gordon 2012, Journal: Gordon 2012 - - De novo - - - 0 - Dennis E. Bulman
Legend   How to query