Individual #00014722

ID_report -
Reference Spain, Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica (GMX)-USC, CIBERER
Remarks -
Gender -
Consanguinity -
Country Spain
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 Kirsten Wöllner


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     
0000013409 - additional phenotype data available; >100 polyps - Isolated (sporadic) 20y - - - - - - - - Stefan Aretz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014638 DNA 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     

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     
5 Unknown +/+ - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Gómez-Fernández et al. 2009 - - De novo ? - - 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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