All variants in the EFTUD2 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+ i16 c.1607+3A>G r.spl? p.? - pathogenic g.42940078T>C g.44862710T>C p.Tyr537fs*25 - EFTUD2_000006 - PubMed: Lines et al. 2012 - - Unknown - - - 0 - Dennis E. Bulman
+?/. - c.1607+3A>G r.spl? p.? - likely pathogenic g.42940078T>C g.44862710T>C EFTUD2(NM_001258353.1):c.1607+3A>G - EFTUD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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