All transcript variants in gene CUBN

Information The variants shown are described using the NM_001081.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/+ 20 c.2673C>A - r.(2673c>a) p.(Cys891*) g.17110722G>T g.17068723G>T - - CUBN_000026 1 Western European MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
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Genomic reference sequence: hg19 (GRCh37)