Full data view for gene SMAD4

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
?/? 2 c.189_197del r.(?) p.(Asn64_Ala66del) Unknown ACMG VUS g.48573605_48573613del g.51047235_51047243del 189_197delAAATGGAGC - SMAD4_000141 ACMG PM2, PM4 PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - - Germline - - - 0 - DNA CSGE, SSCA, SEQ - screening JPS 20-201 PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - F - - - - 0 - - 1 Karl Heinimann
?/? 2 c.189_197del r.(?) p.(Asn64_Ala66del) Unknown ACMG VUS g.48573605_48573613del g.51047235_51047243del 189_197delAAATGGAGC - SMAD4_000141 ACMG PM2, PM4 PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - - Germline - - - 0 - DNA CSGE, SSCA, SEQ - screening JPS 20-301 PubMed: Woodford-Richens 2000, Journal: Woodford-Richens et a 2000 - F - - - - 0 - - 1 Karl Heinimann
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