Full data view for gene SMAD4

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) Unknown ACMG pathogenic g.48575670_48575671del g.51049300_51049301del 430-431delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - 0 - DNA SEQ - screening JPS - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - 1 Global Variome, with Curator vacancy
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) Unknown ACMG VUS g.48575670_48575671del g.51049300_51049301del 426_427delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - 0 - DNA SEQ - screening polyposis 1267 Journal: Ngeow 2013 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) Unknown ACMG VUS g.48575670_48575671del g.51049300_51049301del 426_427delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - 0 - DNA SEQ - screening polyposis 3887 Journal: Ngeow 2013 - - - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) Unknown ACMG pathogenic g.48575670_48575671del g.51049300_51049301del - - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: Pearlman 2016 - - Germline - - - 0 - DNA SEQ-NG - screening CRC 248119 Journal: Pearlman 2016 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 4 c.430_431del r.(?) p.(Ser144Argfs*7) Unknown ACMG VUS g.48575670_48575671del g.51049300_51049301del 320-431delTC - SMAD4_000039 ACMG PVS1, PM2, PM4, PP3 Journal: O'Malley 2011 - - Germline - - - 0 - DNA SEQ - - JPS F1 Journal: O'Malley 2011 - - - (United States) (American) - 0 - - 1 Karl Heinimann
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