Individual #00021398

Reference -
Gender F
Geographic origin Desfina, Phocis
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     
0000013248 34y - - I Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001068 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou
0000007512 DNA MLPA 1 CHEK2 1 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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     
15 Parent #2 ./. g.91303337_91303338insC - BLM_000060 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1088-40_1088-39insC r.(=) p.(=)
15 Parent #2 ./. g.91354640T>G - BLM_000007 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
17 Parent #2 ./. g.29508699T>C - NF1_000101 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.655-29T>C, NM_001042492.2:c.655-29T>C, NM_001128147.2:c.655-29T>C r.(=) p.(=)
22 Maternal (inferred) +/+ g.29092559_29097953del - CHEK2_000086 - - Germline - CHEK2 exons 8-9 deletion (5395del) - - Despoina Kalfakakou CHEK2 8_9, NM_001005735.1:c.1037+1540_1224+330del, NM_001257387.1:c.245+1540_432+330del, NM_007194.3:c.909-2028_1096-698del, NM_145862.2:c.908+1540_1009-698del r.(?) p.(Met347Leufs*16), p.(Met83Leufs*16), p.Met304_Lys365del, p.(Met304Leufs*16)
22 Parent #2 ./. g.30077423G>A - NF2_000007 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1575-5G>A, NM_016418.5:c.1575-5G>A, NM_181825.2:c.1575-5G>A, NM_181828.2:c.1449-5G>A, NM_181829.2:c.1452-5G>A, NM_181830.2:c.1326-5G>A, NM_181831.2:c.1326-5G>A, NM_181832.2:c.1575-5G>A, NM_181833.2:c.448-13318G>A r.spl?, r.(=) p.?, p.(=)
Legend