Individual #00020441

Reference -
Gender M
Geographic origin Livanates, Phthiotis
Geographic origin Asia Minor
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases PrCa
Owner name Despoina Kalfakakou


Phenotypes

Prostate cancer (PrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013169 76y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001512 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
2 Parent #2 -?/-? g.47643476C>T - MSH2_000010 rs4987189 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.984C>T, NM_001258281.1:c.786C>T r.(=) p.(=)
3 Parent #2 ?/? g.10116301A>C - FANCD2_000049 rs61751578 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2803A>C, NM_033084.3:c.2803A>C r.(?) p.(Ile935Leu)
7 Parent #2 ?/? g.116414891G>C - MET_000054 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3029-44G>C, NM_001127500.1:c.3083-44G>C r.(=) p.(=)
9 Parent #2 ?/? g.135777958C>T - TSC1_000002 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2391+34G>A, NM_001162426.1:c.2388+34G>A, NM_001162427.1:c.2238+34G>A r.(=) p.(=)
13 Parent #2 -?/-? g.32893271A>G - BRCA2_000087 rs4987046 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.125A>G r.(?) p.(Tyr42Cys)
13 Parent #2 -/- g.32972760G>A - BRCA2_000097 rs28897762 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10110G>A r.(=) p.(=)
17 Parent #2 ?/? g.17129669T>C - FLCN_000045 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.250-33A>G, NM_144997.5:c.250-33A>G r.(=) p.(=)
17 Parent #2 -/- g.74469914C>T - RHBDF2_000031 rs201989863 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1638+7G>A, NM_024599.5:c.1725+7G>A r.(=) p.(=)
17 Parent #2 -/- g.74475318C>T - RHBDF2_000021 rs142642633 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.314G>A, NM_024599.5:c.401G>A r.(?) p.(Gly105Glu), p.(Gly134Glu)
20 Parent #2 ./. g.62318205del - chr20_000013 - - - - - - - Despoina Kalfakakou - - - -
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