Individual #00014288

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Netherlands
Population -
Age/Death -
VIP -
Data_av ?
Treatment -
Panel size 1
Diseases FAP-1
Owner name Carli Tops


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     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000012975 - ? >100 polyps; colon cancer 34y, Rectum - Unknown 34y - - - - - - - - Carli Tops



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014204 DNA MLPA;SEQ leukocytes screen APC gene (index patient) APC 1 Carli Tops



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.(?_112073556)_(112179824_?)del - g.35041-?_141606+?del - APC_000200 - PubMed: Nielsen et al. 2007a - - Germline ? - - 0 - Carli Tops APC - - - - - P_1_18_ NM_000038.5:c.(?_-85)_(*1_?)del - pathogenic r.0 p.0 - 1_15+promotor - - - - - - - - deletion, large deletion, large - - - - - - -
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