Individual #00013699

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Germany
Population -
Age at death -
VIP -
Data_av yes (pedigree)
Treatment -
Panel size 1
Diseases FAP1
Owner name Stefan Aretz
Database submission license No license selected
Created by Stefan Aretz


Phenotypes

adenomatous polyposis, familial, type 1 (FAP-1, Gardner syndrome) (FAP1)   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     
0000012386 - no additional phenotype data available - Familial - - - - - - - - - Stefan Aretz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000013615 DNA SEQ leukocytes test known APC variant (relative) APC 4 Stefan Aretz



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     
2 Unknown ?/. - VUS g.219855062C>T g.218990340C>T - - CRYBA2_000001 - - - rs77427424 Germline - - - 0 - Johan den Dunnen CRYBA2 - - - - 4 NM_057093.1:c.506G>A - r.(?) p.(Arg169Gln) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. - VUS g.219856827G>A g.218992105G>A - - CRYBA2_000003 - - - rs112876753 Germline - - - 0 - Johan den Dunnen CRYBA2 - - - - 2 NM_057093.1:c.300C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
2 Unknown ?/. - VUS g.219857791G>A g.218993069G>A - - CRYBA2_000002 - - - rs61733621 Germline - - - 0 - Johan den Dunnen CRYBA2 - - - - 1 NM_057093.1:c.108C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
5 Unknown +/+ - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz APC - - - - _1i_18_ NM_000038.5:c.(?_-18-1)_*2113{0} - r.0 p.0 - _1_15_ - - - - - - - deletion, large deletion, large - - - - - - - -
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