Individual #00021638

Reference -
Gender F
Geographic origin Vilia, Attica
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     
0000013698 57y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001833 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.48025785A>C - MSH6_000028 rs41557217 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.663A>C, NM_001281492.1:c.273A>C, NM_001281493.1:c.-244A>C, NM_001281494.1:c.-244A>C r.(?), r.(=) p.(Glu221Asp), p.(Glu91Asp), p.(=)
2 Parent #2 ./. g.58468447A>G - FANCL_000013 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.2T>C, NM_018062.3:c.2T>C r.? p.?
3 Parent #2 ./. g.14199940C>A - XPC_000002 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1332G>T, NM_004628.4:c.1443G>T r.(?) p.(Lys444Asn), p.(Lys481Asn)
7 Parent #2 ./. g.6026827G>C - PMS2_000024 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1569C>G r.(=) p.(=)
7 Parent #2 ./. g.116411923C>T - MET_000014 rs34589476 - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.2908C>T, NM_001127500.1:c.2962C>T r.(?) p.(Arg970Cys), p.(Arg988Cys)
10 Parent #2 ./. g.104353395C>T - SUFU_000004 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.600C>T, NM_016169.3:c.600C>T r.(=) p.(=)
13 Parent #2 ./. g.48881502G>T - RB1_000076 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.224G>T r.(?) p.(Trp75Leu)
13 Parent #2 ./. g.103518949C>T - ERCC5_000029 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
16 Parent #2 ./. g.2126628_2126629insGAA - TSC2_000057 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2837+42_2837+43insGAA, NM_001077183.1:c.2837+42_2837+43insGAA, NM_001114382.1:c.2837+42_2837+43insGAA r.(=) p.(=)
16 Parent #2 ./. g.23637756G>C - PALB2_000004 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2587-38C>G r.(=) p.(=)
17 Parent #2 ./. g.29508818G>T - NF1_000024 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.730+15G>T, NM_001042492.2:c.730+15G>T, NM_001128147.2:c.730+15G>T r.(=) p.(=)
Legend