All transcript variants in gene SMAD4

Information The variants shown are described using the NM_005359.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Owner     
+/. - c.1228C>T r.(?) p.Gln410* g.48593477C>T - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr18_000002 - - Germline (inherited) - Stephanie Baert-Desurmont
+/. - c.1245_1248del r.(?) p.Asp415Glufs*20 g.48593494_48593497del - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr18_000001 - - Germline (inherited) - Stephanie Baert-Desurmont
+/. - c.1527G>A r.(?) p.(Trp509*) g.48604705G>A - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr18_000003 - - Germline (inherited) - Stephanie Baert-Desurmont
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