Individual #00049956

ID_report -
Reference PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005
Remarks -
Gender -
Consanguinity -
Country (France)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases JPS
Owner name Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez


Phenotypes

polyposis syndrome, juvenile (JPS) (JPS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000167162 JPS - - Unknown - - - - - Julia Lopez



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049876 DNA PCR;SEQ - screening 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.48575181_48575187dup g.51048811_51048817dup 375_381dupTGTCTGT - SMAD4_000037 ACMG PVS1, PM2, PM4, PP3 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - Germline - - - 0 - Global Variome, with Curator vacancy SMAD4 - - - - 3 NM_005359.5:c.375_381dup - r.(?) p.(Val128Cysfs*17) - - - - - - - - - - - - - - - - - - -
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