Individual #00021735

Reference -
Gender F
Geographic origin Kalamata
Geographic origin -
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     
0000013580 52y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001961 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     
1 Parent #2 ./. g.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ./. g.232995439T>G - DIS3L2_000015 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+10T>G, NM_001257282.1:c.712T>G, NM_152383.4:c.702+10T>G r.(=), r.(?) p.(=), p.(Tyr238Asp)
6 Parent #2 ./. g.35434083G>A - FANCE_000001 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
8 Parent #2 ./. g.145739108C>T - RECQL4_000166 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-12G>A - p.?
9 Parent #2 ./. g.98211538C>T - PTCH1_000008 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3617G>A, NM_001083602.1:c.3419G>A, NM_001083603.1:c.3614G>A, NM_001083604.1:c.3164G>A, NM_001083605.1:c.3164G>A, NM_001083606.1:c.3164G>A, NM_001083607.1:c.3164G>A r.(?) p.(Arg1206His), p.(Arg1140His), p.(Arg1205His), p.(Arg1055His)
10 Parent #2 ./. g.51549533T>G - chr10_000002 rs41274660 - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.88681384A>T - BMPR1A_000007 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1274A>T r.(?) p.(Tyr425Phe)
14 Parent #2 ./. g.65544749G>C - MAX_000013 - - - - - - - Despoina Kalfakakou MAX - NM_001271069.1:c.144+15677C>G, NM_002382.4:c.177C>G, NM_145112.2:c.150C>G, NM_145113.2:c.177C>G, NM_197957.3:c.171+15677C>G r.(=) p.(=)
15 Parent #2 ./. g.89848480_89848481insG - FANCI_000014 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+7_3186+8insG, NM_018193.2:c.3006+7_3006+8insG r.(=) p.(=)
16 Parent #2 ./. g.23646141_23646142insTCA - PALB2_000005 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
17 Parent #2 ./. g.17125768_17125769del - FLCN_000003 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+46_779+47del, NM_144997.5:c.779+46_779+47del r.(=) p.(=)
21 Parent #2 ./. g.36421116T>C - RUNX1_000009 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001754.4:c.58+23A>G r.(=) p.(=)
Legend