Individual #00021097

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     
0000013611 54y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000127 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     
2 Parent #2 ?/? g.47604230A>G - EPCAM_000001 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.555+14A>G r.(=) p.(=)
8 Parent #2 ?/? g.145739127G>A - RECQL4_000010 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
9 Parent #2 ?/? g.98211538C>T - PTCH1_000008 rs560967532 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3617G>A, NM_001083602.1:c.3419G>A, NM_001083603.1:c.3614G>A, NM_001083604.1:c.3164G>A, NM_001083605.1:c.3164G>A, NM_001083606.1:c.3164G>A, NM_001083607.1:c.3164G>A r.(?) p.(Arg1206His), p.(Arg1140His), p.(Arg1205His), p.(Arg1055His)
11 Parent #2 -/- g.47256343G>A - DDB2_000002 rs144266685 - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.738G>A r.(=) p.(=)
15 Parent #2 ?/? g.91312388C>G - BLM_000011 rs139610577 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2333C>G r.(?) p.(Ser778Cys)
16 Parent #2 ?/? g.50821790T>C - CYLD_000004 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2099+27T>C, NM_001042412.1:c.2099+27T>C, NM_015247.2:c.2108+27T>C r.(=) p.(=)
16 Parent #2 -?/-? g.68842578C>T - CDH1_000008 rs200673941 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.532-18C>T r.(=) p.(=)
17 Parent #2 +/+ g.41201133C>G [Konstantopoulou et al. 2013] BRCA1_000018 rs80358073 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5406+5G>C, NM_007297.3:c.5265+5G>C, NM_007298.3:c.2094+5G>C, NM_007299.3:c.2021-1413G>C, NM_007300.3:c.5469+5G>C r.spl?, r.(=) p.?, p.(=)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
X Parent #2 ?/? g.132826549A>G - GPC3_000002 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-27T>C, NM_001164618.1:c.1119-27T>C, NM_001164619.1:c.1005-27T>C, NM_004484.3:c.1167-27T>C r.(=) p.(=)
Legend