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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008872 35y - - Ductal Invasive III N/A Negative Negative N/A - - - Despoina Kalfakakou

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

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Stage     

Subtype     

Owner     
0000008873 51y - - - - - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000345 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.803+45C>A r.(=) p.(=)
8 Parent #2 ./. g.145740694G>A - RECQL4_000065 - - - - - - - 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 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2656T>C r.(?) p.(Cys886Arg)
17 Parent #2 ./. g.29422306G>C - NF1_000020 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.-22G>C, NM_001042492.2:c.-22G>C, NM_001128147.2:c.-22G>C r.(=) p.(=)
17 Parent #1 ./. g.29559932C>A - NF1_000084 rs2066736 - - - - - - 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 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3496+33C>T, NM_001042492.2:c.3496+33C>T r.(=) p.(=)
17 Parent #2 ./. g.29683646G>A - NF1_000031 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7675+46G>A, NM_001042492.2:c.7738+46G>A r.(=) p.(=)
17 Parent #2 +/+ g.41209080dupG - BRCA1_000050 - - Germline - - - - 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