Individual #00218749

ID_report patient
Reference Journal: Wain 2014
Remarks -
Gender -
Consanguinity -
Country (United States)
Population (American)
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases JPS
Owner name Karl Heinimann
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


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     
0000167285 JPS - - Unknown - - - - - Karl Heinimann



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219820 DNA SEQ - - SMAD4 1 Karl Heinimann



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.48575069_48575073del g.51048699_51048703del 263-267delAAGGA - SMAD4_000142 ACMG PVS1, PM4, PM2, PP3 Journal: Wain 2014 - - Germline - - - 0 - Karl Heinimann SMAD4 - - - - 3 NM_005359.5:c.263_267del - r.(?) p.(Lys88Ilefs*14) - - - - - - - - - - - - - - - - - - -
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