Full data view for gene EFTUD2

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ i16 c.1607+3A>G r.spl? p.? Unknown - pathogenic g.42940078T>C g.44862710T>C p.Tyr537fs*25 - EFTUD2_000006 - PubMed: Lines et al. 2012 - - Unknown - - - 0 - DNA SEQ - - MFDGA;MFDM - PubMed: Lines 2012 - M no ? (unknown) - - 0 - - 1 Dennis E. Bulman
+?/. - c.1607+3A>G r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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