Individual #00021258

Reference -
Gender F
Geographic origin Pontus
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     
0000013588 53y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000531 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.241672030T>C - FH_000019 - - - - - - - Despoina Kalfakakou FH - NM_000143.3:c.611A>G r.(?) p.(His204Arg)
2 Parent #2 ./. g.47635667G>A - MSH2_000036 rs35898375 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.339G>A, NM_001258281.1:c.141G>A r.(=) p.(=)
2 Parent #2 ./. g.128047101C>G - ERCC3_000005 rs4150413 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-24G>C r.(=) p.(=)
4 Parent #2 ./. g.41747971A>G - PHOX2B_000009 - - - - - - - Despoina Kalfakakou PHOX2B - NM_003924.3:c.798T>C r.(=) p.(=)
8 Parent #2 ./. g.30938513A>G - WRN_000018 rs1800390 - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 ./. g.145740881C>T - RECQL4_000088 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1259-40G>A - p.?
9 Parent #2 ./. g.98002890A>G - FANCC_000004 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.345+41T>C, NM_001243743.1:c.345+41T>C, NM_001243744.1:c.345+41T>C r.(=) p.(=)
12 Parent #2 ./. g.121426645G>A - HNF1A_000010 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.336G>A r.(=) p.(=)
12 Parent #2 ./. g.121437108C>T - HNF1A_000015 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
15 Parent #2 ./. g.40509665T>A - BUB1B_000016 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2679-32T>A r.(=) p.(=)
16 Parent #2 ./. g.2137825C>T - TSC2_000108 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4990-39C>T, NM_001077183.1:c.4789-39C>T, NM_001114382.1:c.4921-39C>T r.(=) p.(=)
16 Parent #2 ./. g.23637756G>C - PALB2_000004 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2587-38C>G r.(=) p.(=)
Legend