Full data view for 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     

Allele     

DNA change (genomic) (hg19)     

Published as     

Reference     

DB-ID     

Frequency     

Variant remarks     

Genetic origin     

Segregation     

Date     

Template     

Technique     

Tissue     

Method     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Remarks     

Family History     

Pedigree information available     

Selection criteria for proband testing     

Panel size     

Owner     
+/. - c.1228C>T r.(?) p.Gln410* Unknown 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) - - DNA ? - - SSPCS ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1245_1248del r.(?) p.Asp415Glufs*20 Unknown 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) - - DNA ? - - JPS ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication - France - - - - - 1 Stephanie Baert-Desurmont
+/. - c.1527G>A r.(?) p.(Trp509*) Unknown 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) - - DNA ? - - FAP-1 ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication F France - - - - - 1 Stephanie Baert-Desurmont
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