Individual #00017059

Reference -
Gender F
Geographic origin Athens
Geographic origin Nea Kios, Argolis
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     
0000009395 44y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000793 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     
2 Parent #2 ?/? g.47637301T>G - MSH2_000032 rs63750124 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.435T>G, NM_001258281.1:c.237T>G r.(?) p.(Ile145Met), p.(Ile79Met)
8 Parent #2 ?/? g.31012117G>A - WRN_000037 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3688-23G>A r.(=) p.(=)
9 Parent #2 -?/-? g.98209591T>C - PTCH1_000051 rs147067171 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3947A>G, NM_001083602.1:c.3749A>G, NM_001083603.1:c.3944A>G, NM_001083604.1:c.3494A>G, NM_001083605.1:c.3494A>G, NM_001083606.1:c.3494A>G, NM_001083607.1:c.3494A>G r.(?) p.(Tyr1316Cys), p.(Tyr1250Cys), p.(Tyr1315Cys), p.(Tyr1165Cys)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32930673C>T - BRCA2_000059 rs28897744 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7544C>T r.(?) p.(Thr2515Ile)
16 Parent #2 ?/? g.2122392del - TSC2_000019 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
16 Parent #2 -?/-? g.68835604G>A - CDH1_000039  rs1057522751 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.195G>A r.(=) p.(=)
19 Parent #2 ?/? g.33792731_33792732insGCGGGT - CEBPA_000010 - - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.589_590insACCCGC r.(?) p.(His195_Pro196dup)
Legend