Unique variants in the CUBN gene

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

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     
+?/+? 1 11i c.1230+1G>A r.spl? p.? - likely pathogenic g.17147455C>T g.17105456C>T - - CUBN_000005 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2004 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 15 c.1838del r.(?) p.(Gly613Glufs*9) - pathogenic g.17130273del g.17088274del p.Gly613fs - CUBN_000018 1 Finnish MGA1 family (com-het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 23i c.3330-439C>G r.[3329_3330ins66, 3329_3330ins125] p.0 - pathogenic g.17088532G>C g.17046533G>C IVS23-439C>G (FM2) - CUBN_000002 1 Finnish MGA1 family (hom), 1 Swedish MGA1 family (com-het) PubMed: Aminoff et al. 1999, PubMed: Tanner et al. 2004, PubMed: Tanner et al. 2012 - - SUMMARY record yes 0/151 CON - - - Anne Polvi
+/+ 1 27 c.3890C>T r.(3890c>u) p.(Pro1297Leu) - pathogenic g.17083159G>A g.17041160G>A 3916C>T (FM1) Finnish Major mutation - CUBN_000001 1 more item 1 more item - rs121434430 SUMMARY record yes 1/158 CON (het) - - - Anne Polvi
+/+ 1 27 c.3999C>A r.(3999c>a) p.(Cys1333*) - pathogenic g.17083050G>T g.17041051G>T - - CUBN_000034 1 Finnish MGA1 family (het) PubMed: Tanner et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
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Genomic reference sequence: hg19 (GRCh37)