Individual #00019763

Reference -
Gender M
Geographic origin Alexandroupolis
Geographic origin Ioannina
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases GaPol, GIST, Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Gastrointestinal stromal tumor (GIST)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011990 27y - - - Despoina Kalfakakou

Gastric Polyps (GaPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011989 23y - - - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011988 17y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006131 DNA SEQ 1 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 Maternal (inferred) +/+ g.112174058A>T - APC_000150 - - Germline ? - - - Despoina Kalfakakou APC - NM_000038.5:c.2767A>T, NM_001127510.2:c.2767A>T, NM_001127511.2:c.2713A>T r.(?) p.(Arg923*), p.(Arg905*)
Legend