Individual #00021904

Reference -
Gender F
Geographic origin Haliacmon, Kozani
Geographic origin Siatista, Kozani
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013964 70y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002271 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.29432626G>T - ALK_000123 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3836+26C>A r.(=) p.(=)
3 Parent #2 ?/? g.10076517C>T - FANCD2_000022 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.377+35C>T, NM_033084.3:c.377+35C>T r.(=) p.(=)
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
7 Parent #2 ?/? g.55211136G>A - EGFR_000014 rs377444977 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.379G>A, NM_201282.1:c.379G>A, NM_201283.1:c.379G>A, NM_201284.1:c.379G>A r.(?) p.(Ala127Thr)
11 Parent #2 ./. g.89011066C>G - chr11_000011 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.95562311C>T - CEP57_000001 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.1101-40C>T, NM_001243777.1:c.1050-40C>T, NM_014679.4:c.1128-40C>T r.(=) p.(=)
13 Parent #2 -/- g.32912560G>A - BRCA2_000025 rs28897724 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4068G>A r.(=) p.(=)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
16 Parent #2 ?/? g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
17 Parent #2 -/- g.29552261C>T - NF1_000296 rs145891889 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1994C>T, NM_001042492.2:c.1994C>T, NM_001128147.2:c.*3253C>T r.(?), r.(=) p.(Ser665Phe), p.(=)
X Parent #2 -/- g.132826530A>G - GPC3_000003 rs182950534 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-8T>C, NM_001164618.1:c.1119-8T>C, NM_001164619.1:c.1005-8T>C, NM_004484.3:c.1167-8T>C r.(=) p.(=)
Legend