Individual #00264255

ID_report daughter
Reference Journal: Brusgaard 2017
Remarks -
Gender F
Consanguinity -
Country (Denmark)
Population (european)
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases JPHT
Owner name Benjamin Tschupp
Database submission license No license selected
Created by Benjamin Tschupp


Phenotypes

polyposis, juvenile/hereditary hemorrhagic telangiectasia syndrome (JPHT) (JPHT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000202101 - JP-HHT - Familial - - - - - Benjamin Tschupp



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000265375 DNA SEQ;SEQ-NG - screening SMAD4 1 Benjamin Tschupp



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 +/+ - pathogenic (dominant) g.? - t(1;18)(p36.1;q21.1) - SMCHD1_000000 - Journal: Brusgaard 2017 - - Germline - - - 0 - Benjamin Tschupp SMAD4 - - - - - NM_005359.5:c.? - r.(?) p.? - - - - - - - - - - - - - - - - - - -
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