All transcript variants in gene CUBN

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

1 entry on 1 page. Showing entry 1.
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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     
+?/+? 26 c.3749C>T - r.(3749c>u) p.(Ser1250Phe) g.17085906G>A g.17043907G>A - - CUBN_000032 1 Turkish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
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Genomic reference sequence: hg19 (GRCh37)