Individual #00020045

Reference -
Gender M
Geographic origin Thessaloniki
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases CRC, Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012297 44y - - No No Yes - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012296 44y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006310 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 Parent #2 +/+ g.112174474_112174478del Fostira et al (2010) APC_000161 rs587779352 - Germline ? - - - Despoina Kalfakakou APC - NM_000038.5:c.3183_3187del, NM_001127510.2:c.3183_3187del, NM_001127511.2:c.3129_3133del r.(?) p.(Gln1062*), p.(Gln1044*)
Legend