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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013611 54y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000127 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.555+14A>G r.(=) p.(=)
8 Parent #2 ./. g.145739127G>A - RECQL4_000010 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
9 Parent #2 ./. g.98211538C>T - PTCH1_000008 - - - - - - - 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 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.738G>A r.(=) p.(=)
15 Parent #2 ./. g.91312388C>G - BLM_000011 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.2333C>G r.(?) p.(Ser778Cys)
16 Parent #2 ./. g.50821790T>C - CYLD_000004 - - - - - - - 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 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.532-18C>T r.(=) p.(=)
17 Parent #2 ./. g.29563085_29563086insTG - NF1_000027 rs56874702 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3974+46_3974+47insTG, NM_001042492.2:c.3974+46_3974+47insTG r.(=) p.(=)
17 Parent #2 ./. g.41201133C>G - BRCA1_000018 rs80358073 - - - - - - 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 - - - - - - - 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