Individual #00049994

ID_report -
Reference PubMed: Nasim 2011, Journal: Nasim 2011
Remarks -
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000167141 pulmonary arterial hypertension - - Unknown - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049914 DNA SEQ - - SMAD4 1 Global Variome, with Curator vacancy



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
18 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 - SIB - Livia Famiglietti SMAD4 - - - - 1 NM_005359.5:c.38A>G - r.(?) p.(Asn13Ser) - - - - - - - - - - - - - - - - - - -
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