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.
Legend   How to query  

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.375_381dup r.(?) p.(Val128Cysfs*17) Unknown ACMG pathogenic g.48575181_48575187dup g.51048811_51048817dup 375_381dupTGTCTGT - SMAD4_000037 ACMG PVS1, PM2, PM4, PP3 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS - PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) - - 0 - - 1 Global Variome, with Curator vacancy
?/+ 3 c.375_381dup r.(?) p.(Val128Cysfs*17) Unknown ACMG VUS g.48575181_48575187dup g.51048811_51048817dup 375dup7 - SMAD4_000037 ACMG PVS1, PM2, PM4, PP3 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS 2127 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - 1 Karl Heinimann
Legend   How to query