Individual #00011825

ID_report -
Reference Canada, Toronto, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital
Remarks -
Gender M
Consanguinity -
Country Canada
Population -
Age/Death -
VIP -
Data_av yes (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     

Diagnosis/Original     

Phenotype details     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

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Phenotype/Onset     

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Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000010512 - ? additional phenotype data available; colorectal phenotype attenuated, <100 polyps entire colon; colon cancer, colon ascendens - Familial 44y - - - - - - - - Stefan Aretz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011741 DNA RT-PCR;PTT;SEQ ? test known APC variant (relative) 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     

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Owner     

Gene     

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IDbase Accession Number     

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DNA change (cDNA)     

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ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

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Predict/MutationTaster     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
5 Unknown +/+ g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz APC - - - - - 3i_4i NM_000038.5:c.(-19+1_-18-1)_(135+1_136-1)del - pathogenic r.? p.0? - 4 - - - - - - - - deletion, large deletion, large - - - - - - -
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