Individual #00021849

Reference -
Gender F
Geographic origin Northern Epirus
Geographic origin Karkinagri, Icaria
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     
0000013891 66y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002158 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.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ./. g.58456962C>G - FANCL_000002 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.203G>C, NM_018062.3:c.203G>C r.(?) p.(Arg68Pro)
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 ./. g.10183714C>G - VHL_000004 rs63650860 - - - - - - Despoina Kalfakakou VHL - NM_000551.3:c.183C>G, NM_198156.2:c.183C>G r.(=) p.(=)
6 Parent #2 ./. g.31620547C>G - chr6_000043 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.2906188_2906189insGACCGC - CDKN1C_000003 - - - - - - - Despoina Kalfakakou CDKN1C - NM_000076.2:c.531_532insGCGGTC, NM_001122630.1:c.498_499insGCGGTC, NM_001122631.1:c.498_499insGCGGTC r.(?) p.(Ala176_Val177dup), p.(Ala165_Val166dup)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ./. g.95569761C>T - DICER1_000015 rs45562437 - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.3972G>A, NM_001271282.1:c.3972G>A, NM_030621.3:c.3972G>A, NM_177438.2:c.3972G>A r.(=) p.(=)
16 Parent #2 ./. g.89815201G>A - FANCA_000039 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ./. g.89831482_89831483del - FANCA_000043 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
17 Parent #2 ./. g.66526629T>G - PRKAR1A_000006 - - - - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.*39T>G, NM_001276290.1:c.973+487T>G, NM_002734.4:c.*39T>G, NM_212471.2:c.*39T>G, NM_212472.2:c.*39T>G r.(=) p.(=)
Legend