Individual #00013661

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Germany
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     

Phenotype details     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000012348 colorectal symptoms additional phenotype data available; colorectal phenotype attenuated, 108 polyps proximal accentuated; colectomy 42y - Familial 42y - - - - - - - - Stefan Aretz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000013577 DNA SEQ leukocytes screen APC gene (index patient) APC 2 Stefan Aretz



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
2 Unknown +/. g.208994404T>G g.208129680T>G - - CRYGC_000001 yeat-two-hybrid analysis decreased interaction CRYAA, CRYAB, CRYBB2, CRYGC (not with itself) PubMed: Fu 2003, OMIM:var0001 - - In vitro (cloned) - - - 0 - Johan den Dunnen CRYGC - - - - - 2 NM_020989.3:c.13A>C - - r.(?) p.Thr5Pro - - - - - - - - - - - - - - - - - - -
5 Unknown +/+ g.112154723C>T g.112819026C>T - - APC_000082 - PubMed: Friedl and Aretz 2005 - - Germline ? - - 0 - Stefan Aretz APC - - - - - 12 NM_000038.5:c.994C>T - pathogenic r.(?) p.(Arg332*) - 9 - - - - - - - - nonsense substitution - - - - - - -
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