All variants in the EFTUD2 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+?/+? i11 c.994+1G>C r.spl? p.? - likely pathogenic g.42949813C>G g.44872445C>G = - EFTUD2_000025 - PubMed: Voigt et al. 2013 - - Germline yes - - 0 - Dennis E. Bulman
+?/+? i11 c.994+1G>C r.spl? p.? - likely pathogenic g.42949813C>G g.44872445C>G = - EFTUD2_000025 - PubMed: Voigt et al. 2013 - - Germline yes - - 0 - Dennis E. Bulman
+?/+? 11i c.994+1G>C r.spl? p.? - likely pathogenic g.42949813C>G g.44872445C>G = - EFTUD2_000025 - PubMed: Voigt et al. 2013 - - Unknown ? - - 0 - Dennis E. Bulman
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