Individual #00019748

Reference -
Gender F
Geographic origin Volos
Geographic origin Ilia
Population Greek
Consanguinity no
Remarks -
Panel ID 00019746
Panel size 3
Diseases EnPol, GaPol, Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Gastric Polyps (GaPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011975 25y - - - Despoina Kalfakakou

Endometrial polyps (EnPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011974 25y - - Hyperplastic Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011973 23y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006118 DNA SEQ 0 APC 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
5 Parent #2 +/+ g.(?_112073556)_(112181936_?)del - APC_000172 - Deletion extending 5' and 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. Germline - APC whole gene deletion - - Despoina Kalfakakou APC - NM_000038.5:c.?, NM_001127510.2:c.?, NM_001127511.2:c.? r.0 p.0
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