Individual #00021339

Reference -
Gender F
Geographic origin Myrsini, Elis
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     

OvCa FH     

Subtype     

Owner     
0000013748 59y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000866 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     
1 Parent #2 -?/-? g.45798054A>G - MUTYH_000040 rs143091801 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.746+9T>C, NM_001048172.1:c.707+9T>C, NM_001048173.1:c.704+9T>C, NM_001048174.1:c.704+9T>C, NM_001128425.1:c.788+9T>C, NM_012222.2:c.779+9T>C r.(=) p.(=)
2 Parent #2 ?/? g.30143140C>T - ALK_000060 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.386G>A r.(?) p.(Gly129Asp)
2 Parent #2 ?/? g.233195514C>G - DIS3L2_000013 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
7 Parent #2 ?/? g.6029464T>G - PMS2_000071 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1111A>C r.(?) p.(Asn371His)
11 Parent #2 ?/? g.108164131A>G - ATM_000034 rs368830730 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4703A>G r.(?) p.(His1568Arg)
14 Parent #2 ?/? g.45623852A>G - FANCM_000062 rs374213749 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1184-48A>G r.(=) p.(=)
15 Parent #2 ?/? g.89848480_89848481insG - FANCI_000014 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3186+7_3186+8insG, NM_018193.2:c.3006+7_3006+8insG r.(=) p.(=)
16 Parent #2 -/- g.89805125G>C - FANCA_000092 rs368506826 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4261-9C>G r.(=) p.(=)
17 Parent #2 ?/? g.74471258C>T - RHBDF2_000001 rs62085019 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1116-35G>A, NM_024599.5:c.1203-35G>A r.(=) p.(=)
17 Parent #2 ?/? g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
Legend