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     
+/+ 2i c.424+1G>A r.spl p.? Unknown ACMG pathogenic g.48575231G>A g.51048861G>A - - SMAD4_000129 ACMG PVS1, PM2, PP3, PP5 PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - rs377767386 Germline - - - 0 - DNA CSGE, SSCAf, SEQ - screening JPS - PubMed: Woodford-Richens 2001, Journal: Woodford-Richens 2001 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/+ 3i c.424+1G>A r.spl p.? Unknown ACMG VUS g.48575231G>A g.51048861G>A - - SMAD4_000129 ACMG PVS1, PM2, PP3, PP5 Journal: Alberici 2008 - rs377767386 Germline - - - 0 - DNA SEQ - - JPS JPS case 2 Journal: Alberici 2008 - - - (Finland) (European) - 0 - - 1 Karl Heinimann
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