Individual #00020758

Reference -
Gender M
Geographic origin Pentakorfo, Etolia-Akarnania
Geographic origin Voulgareli, Arta
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BladCa, ColPol, PrCa
Owner name Despoina Kalfakakou


Phenotypes

Prostate cancer (PrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012519 74y - - - Despoina Kalfakakou

Bladder Cancer (BladCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012517 74y - - Papillary Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012520 75y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001401 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend  

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     
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 ?/? g.145736920G>T - RECQL4_000164 rs1254840136 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3522C>A - p.?
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.32910636G>C - BRCA2_000192 rs1566226193 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2144G>C r.(?) p.(Gly715Ala)
16 Parent #2 -/- g.89805045A>C - FANCA_000019 rs149531696 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4332T>G r.(=) p.(=)
16 Parent #2 ./. g.89986122C>A - chr16_000004 - - - - - - - Despoina Kalfakakou - - - -
Legend