All transcript variants in gene BMPR1A

Information The variants shown are described using the NM_004329.2 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.67+2T>C r.(?) p.? g.88635844T>C - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr10_000003 - - Germline (inherited) - Stephanie Baert-Desurmont
+?/. - c.67+2T>C r.(?) p.? g.88635844T>C - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr10_000003 - - Germline (inherited) - Stephanie Baert-Desurmont
+/. - c.271C>T r.(?) p.Gln91* g.88651924C>T - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr10_000004 - - Germline (inherited) - Stephanie Baert-Desurmont
+/. - c.682C>T r.(?) p.Arg228* g.88676897C>T - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr10_000002 - - Germline (inherited) - Stephanie Baert-Desurmont
+/. - c.1235_1236dup r.(?) p.Leu413Cysfs*6 g.88681345_88681346dup - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr10_000005 - - Germline (inherited) - Stephanie Baert-Desurmont
+?/. - c.1342+1G>T r.(?) p.? g.88681453G>T - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr10_000001 - - Germline (inherited) - Stephanie Baert-Desurmont
+/. - c.1342+1G>T r.(?) p.? g.88681453G>T - ""Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes"", accepted for publication chr10_000001 - - Germline (inherited) - Stephanie Baert-Desurmont
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