Individual #00011706

ID_report -
Reference Switzerland, Basel, Human Genetics, Department of Research, University Clinics
Remarks -
Gender -
Consanguinity -
Country Switzerland
Population -
Age/Death -
VIP -
Data_av no (pedigree)
Treatment -
Panel size 1
Diseases FAP-1
Owner name Stefan Aretz


Phenotypes

adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome) (FAP-1)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Phenotype details     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000010393 - no additional phenotype data available; colorectal phenotype attenuated <100 polyps - Familial - - - - - - - - - Stefan Aretz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011622 DNA PTT;RT-PCR;SSCA;SEQ ? screen APC gene (index patient) APC 1 Stefan Aretz



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     

Protein level     
5 Unknown ?/? g.112102960C>T g.112767263C>T codon 99, CGG --> TGG - APC_000420 - PubMed: Dobbie et al. 1996 - - Germline ? - - 0 - Stefan Aretz APC - - - - - 6 NM_000038.5:c.295C>T - VUS r.(?) p.(Arg99Trp) - 3 - - - - - - - - missense substitution - - - - - - -
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