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     

OvCa FH     

Subtype     

Owner     
0000013891 66y - - 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 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - 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 - Germline - - - - 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 rs143819820 - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3240-26C>T r.(=) p.(=)
16 Parent #2 ?/? g.89831482_89831483del - FANCA_000043 rs577636020 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2602-9_2602-8del r.(=) p.(=)
17 Parent #2 ?/? g.66526629T>G - PRKAR1A_000006 rs768256259 - Germline - - - - 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.(=)
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