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     
+/? 1 c.38A>G r.(?) p.(Asn13Ser) Unknown ACMG pathogenic g.48573454A>G g.51047084A>G - - SMAD4_000004 rare variant found in a patient with pulmonary arterial hypertension; ACMG PM2, PP3 PubMed: Nasim 2011, ExPASy_066870, Journal: Nasim 2011 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Nasim 2011, Journal: Nasim 2011 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/? 2 c.38A>G r.(?) p.(Asn13Ser) Unknown - VUS g.48573454A>G g.51047084A>G - - SMAD4_000004 - Journal: Nasim 2011 - - Germline - - - 0 - DNA SEQ - - ? - Journal: Nasim 2011 - - - - - - 0 - - 1 Benjamin Tschupp
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