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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013964 70y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002271 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3836+26C>A r.(=) p.(=)
3 Parent #2 ./. g.10076517C>T - FANCD2_000022 - - - - - - - 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 - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
7 Parent #2 ./. g.55211136G>A - EGFR_000014 - - - - - - - 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 - - - - - - - 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 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4068G>A r.(=) p.(=)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
16 Parent #2 ./. g.89842176C>G - FANCA_000004 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
17 Parent #1 ./. g.29508821dup - NF1_000250 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.730+18dup, NM_001042492.2:c.730+18dup, NM_001128147.2:c.730+18dup r.(=) p.(=)
17 Parent #2 ./. g.29552261C>T - NF1_000296 - - - - - - - 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 - - - - - - - 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