Individual #00017930

Reference -
Gender F
Geographic origin Aidona, Kalampaka
Geographic origin Farkadona, Trikala
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000010763 37y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002080 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     
3 Parent #2 ?/? g.10106366T>C - FANCD2_000053 rs4019782 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2022-47T>C, NM_033084.3:c.2022-47T>C r.(=) p.(=)
7 Parent #2 ?/? g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2149G>A r.(?) p.(Val717Met)
14 Parent #2 ?/? g.45624050G>A - FANCM_000002 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1309+25G>A r.(=) p.(=)
16 Parent #2 -/- g.3645724C>T - SLX4_000019 rs149916101 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 -/- g.3646275C>T - SLX4_000001 rs144892556 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 -/- g.3646323G>A - SLX4_000002 rs114016359 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
16 Parent #2 ?/? g.50828088C>T - CYLD_000003 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2461-35C>T, NM_001042412.1:c.2461-35C>T, NM_015247.2:c.2470-35C>T r.(=) p.(=)
17 Parent #2 ?/? g.17119658G>A - FLCN_000019 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*5035C>T, NM_144997.5:c.1300+36C>T r.(=) p.(=)
17 Parent #2 -/- g.41245027G>A - BRCA1_000038 rs1800709 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2521C>T, NM_007297.3:c.2380C>T, NM_007298.3:c.787+1734C>T, NM_007299.3:c.787+1734C>T, NM_007300.3:c.2521C>T r.(?), r.(=) p.(Arg841Trp), p.(Arg794Trp), p.(=)
18 Parent #2 -/- g.48604848C>T - SMAD4_000004 rs11663402 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
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