Individual #00021090

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00021089
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     
0000013764 60y - - III Clear-cell - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000091 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.47635624G>A - MSH2_000012 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.296G>A, NM_001258281.1:c.98G>A r.(?) p.(Arg99Lys), p.(Arg33Lys)
8 Parent #2 ./. g.30938513A>G - WRN_000018 rs1800390 - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
9 Parent #2 ./. g.35075635C>G - FANCG_000003 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1260G>C r.(?) p.(Leu420Phe)
11 Parent #2 ./. g.108175387G>C - ATM_000035 rs3092828 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5497-15G>C r.(=) p.(=)
13 Parent #2 ./. g.32911271A>G - BRCA2_000020 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2779A>G r.(?) p.(Met927Val)
13 Parent #2 ./. g.32972280G>A - BRCA2_000016 rs11571830 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9649-19G>A r.(=) p.(=)
15 Parent #2 ./. g.91306338G>A - BLM_000021 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2025G>A r.(=) p.(=)
16 Parent #2 ./. g.2137985G>A - TSC2_000032 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
17 Parent #2 ./. g.41243941G>A - BRCA1_000004 rs62625308 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3607C>T, NM_007297.3:c.3466C>T, NM_007298.3:c.788-892C>T, NM_007299.3:c.788-892C>T, NM_007300.3:c.3607C>T r.(?), r.(=) p.(Arg1203*), p.(Arg1156*), p.(=)
Legend