Individual #00021536

Reference -
Gender F
Geographic origin -
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     
0000013348 42y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001709 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.233001157T>C - DIS3L2_000079 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.703-25T>C, NM_152383.4:c.703-25T>C r.(=) p.(=)
7 Parent #2 ?/? g.148523541C>T - EZH2_000056 - - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.892+20G>A, NM_001203248.1:c.865+20G>A, NM_001203249.1:c.865+20G>A, NM_004456.4:c.907+5G>A, NM_152998.2:c.775+20G>A r.(=), r.spl? p.(=), p.?
8 Parent #2 -?/-? g.90993640C>T - NBN_000012 rs61753720 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.283G>A r.(?) p.(Asp95Asn)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ?/? g.48954145C>A - RB1_000017 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-44C>A r.(=) p.(=)
15 Parent #2 ?/? g.89801942A>G - FANCI_000117 rs745341673 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.92A>G, NM_018193.2:c.92A>G r.(?) p.(Asn31Ser)
Legend