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     
-/. - c.762T>C r.(?) p.(Thr254=) - benign g.42953409A>G g.44876041A>G EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=) - EFTUD2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.762T>C r.(?) p.(Thr254=) - benign g.42953409A>G g.44876041A>G EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=) - EFTUD2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.762T>C r.(?) p.(Thr254=) - benign g.42953409A>G g.44876041A>G EFTUD2(NM_001258353.2):c.762T>C (p.T254=), EFTUD2(NM_004247.3):c.762T>C (p.T254=) - EFTUD2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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