Full data view for gene SMAD4

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) Unknown ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - DNA SEQ - - JPS patient Journal: Wain 2014 - - - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) Unknown ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - DNA SEQ - - JPS patient Journal: Wain 2014 - - - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) Unknown ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - DNA SEQ - - JPS patient Journal: Wain 2014 - - - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) Unknown ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - DNA SEQ - - JPS patient Journal: Wain 2014 - - - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) Unknown ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - DNA SEQ - - JPS patient Journal: Wain 2014 - - - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ 3 c.263_267del r.(?) p.(Lys88Ilefs*14) Unknown ACMG pathogenic g.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - DNA SEQ - - JPS patient Journal: Wain 2014 - - - (United States) (American) - 0 - - 1 Karl Heinimann
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