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     
+/+ 15 c.1297_1298del r.(?) p.Met433Valfs*17 - pathogenic g.42941138_42941139del g.44863770_44863771del - - EFTUD2_000060 - Huang et al. 2015 - - De novo - - - 0 - Dennis E. Bulman
+/+ 15 c.1297_1298del r.(?) p.Met433Valfs*17 - pathogenic g.42941138_42941139del g.44863770_44863771del - - EFTUD2_000060 - Huang et al. 2015 - - Unknown - - - 0 - Dennis E. Bulman
+/. - c.1297_1298del r.(?) p.(Met433ValfsTer17) - pathogenic g.42941138_42941139del g.44863770_44863771del EFTUD2(NM_004247.3):c.1297_1298delAT (p.M433Vfs*17) - EFTUD2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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