Individual #00016677

Reference -
Gender F
Geographic origin Kefalonia
Geographic origin Pisidia, Asia Minor
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases BrCa, ENC
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     
0000008872 35y - - - - Despoina Kalfakakou

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008873 51y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000345 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
6 Parent #2 ./. g.29918139C>T - chr6_000031 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6036912G>T - PMS2_000032 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.803+45C>A r.(=) p.(=)
8 Parent #2 ?/? g.145740694G>A - RECQL4_000065 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1390+16C>T - p.?
12 Parent #2 ./. g.88953967A>G - chr12_000007 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.23637649A>G - PALB2_000026 rs1555459977 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2656T>C r.(?) p.(Cys886Arg)
17 Parent #1 -/- g.29559932C>A - NF1_000084 rs2066736 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3496+33C>A, NM_001042492.2:c.3496+33C>A r.(=) p.(=)
17 Parent #2 -?/-? g.29559932C>T - NF1_000085 rs2066736 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3496+33C>T, NM_001042492.2:c.3496+33C>T r.(=) p.(=)
17 Parent #2 +/+ g.41209080dupG [Konstantopoulou et al. 2007], [Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000050 rs80357906 - Germline - - Thrace, Macedonia, Thessalia Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5266dupC, NM_007297.3:c.5125dupC, NM_007298.3:c.1954dupC, NM_007299.3:c.1954dupC, NM_007300.3:c.5329dupC r.(?) p.(Gln1756Profs*74), p.(Gln1709Profs*74), p.(Gln652Profs*74), p.(Gln652Profs*54), p.(Gln1777Profs*74)
19 Parent #2 ./. g.33532313G>A - chr19_000003 - - - - - - - Despoina Kalfakakou - - - -
Legend