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     
?/. - c.424+5G>A r.(?) p.? Unknown ACMG VUS g.48575235G>A g.51048865G>A - - SMAD4_000127 ACMG grading: PP3; This variant was sigma-ca at age 52y, MSS, no loss of MMR genes in IHC; several cancers in maternal side (CRC and BC); - - rs200772603 Germline - - - 0 - DNA SEQ-NG - - - - - - F - Germany - - 0 - - 1 Andreas Laner
?/. - c.424+5G>A r.spl? p.? Unknown - VUS g.48575235G>A g.51048865G>A - - SMAD4_000127 - - - - Germline - - - 0 - DNA SEQ-NG - MUTYH and STK11 were also sequenced CRC - - - F - Australia - >27y 0 - - 1 InSiGHT - John-Paul Plazzer
-/? 3i c.424+5G>A r.spl? p.? Unknown ACMG benign g.48575235G>A g.51048865G>A - - SMAD4_000127 ACMG PP3, BP6 Journal: Jelsig 2016 - rs200772603 Germline - - - 0 - DNA SEQ-NG-I - screening HPS patient Journal: Jelsig 2016 - - - (Denmark) (European) - 0 - - 1 Karl Heinimann
-?/. - c.424+5G>A r.spl? p.? Unknown - likely benign g.48575235G>A g.51048865G>A SMAD4(NM_005359.5):c.424+5G>A - SMAD4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.424+5G>A r.spl? p.? Unknown - likely benign g.48575235G>A g.51048865G>A SMAD4(NM_005359.5):c.424+5G>A - SMAD4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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