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.403C>T r.(?) p.(Arg135*) Unknown ACMG pathogenic g.48575209C>T g.51048839C>T 403C>T | R135X - SMAD4_000038 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - rs377767326 Germline - - - 0 - DNA SEQ - screening JPS - PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2 c.403C>T r.(?) p.(Arg135*) Unknown - pathogenic (dominant) g.48575209C>T g.51048839C>T - - SMAD4_000038 - PubMed: Aretz 2007 - - Germline - - - 0 - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat92 PubMed: Aretz 2007 - - - - Germany - 0 - - 1 Johan den Dunnen
+/+ 3 c.403C>T r.(?) p.(Arg135*) Unknown - pathogenic (dominant) g.48575209C>T g.51048839C>T - - SMAD4_000038 - - - - Germline - - - 0 - DNA SEQ - - JPS - - - F - - - 39y 0 - - 1 Benjamin Tschupp
+/+ 3 c.403C>T r.(?) p.(Arg135*) Unknown - pathogenic (dominant) g.48575209C>T g.51048839C>T - - SMAD4_000038 - - - - Germline - - - 0 - DNA SEQ - screening JPS - - - F - - - - 0 - - 1 Benjamin Tschupp
+/+ 3 c.403C>T r.(?) p.(Arg135*) Unknown - pathogenic (dominant) g.48575209C>T g.51048839C>T - - SMAD4_000038 - - - - Germline - - - 0 - DNA SEQ - - JPS - - - F - - - 52y 0 - - 1 Benjamin Tschupp
+/. - c.403C>T r.(?) p.(Arg135Ter) Unknown - pathogenic g.48575209C>T - SMAD4(NM_005359.5):c.403C>T (p.R135*) - SMAD4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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