Individual #00021288

Reference -
Gender F
Geographic origin Agia Varvara, Attica
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000013568 52y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006913 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou



Variants

19 entries on 1 page. Showing entries 1 - 19.
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 Both (homozygous) -/- g.17349090C>T - SDHB_000031  rs115561881 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.765+13G>A r.(=) p.(=)
5 Parent #2 -/- g.176638730C>T - NSD1_000030 rs541077303 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.3330C>T, NM_172349.2:c.2523C>T r.(=) p.(=)
7 Parent #2 ./. g.50466314C>G - chr7_000013 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.30938828G>A - WRN_000131 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1269+16G>A r.(=) p.(=)
8 Parent #2 ?/? g.145739430C>A - RECQL4_000094 rs372664774 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1940G>T - p.?
8 Parent #2 -/- g.145739905G>A - RECQL4_000193 rs369852601 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1625C>T - p.?
9 Parent #2 -/- g.35079445T>C - FANCG_000020 rs200677800 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.77A>G r.(?) p.(Gln26Arg)
13 Parent #2 ?/? g.32915105G>A - BRCA2_000283 rs80358889 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6613G>A r.(?) p.(Val2205Met)
16 Parent #2 -?/-? g.2126056C>T - TSC2_000312 rs201184637 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2640-13C>T, NM_001077183.1:c.2640-13C>T, NM_001114382.1:c.2640-13C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2132417C>T - TSC2_000313 rs201878712 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3815-20C>T, NM_001077183.1:c.3682+618C>T, NM_001114382.1:c.3814+618C>T r.(=) p.(=)
16 Parent #2 ?/? g.2136175_2136176del - TSC2_000311 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4663-19_4663-18del, NM_001077183.1:c.4462-19_4462-18del, NM_001114382.1:c.4594-19_4594-18del r.(=) p.(=)
16 Parent #2 -/- g.2137857C>T - TSC2_000127 rs45457095 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4990-7C>T, NM_001077183.1:c.4789-7C>T, NM_001114382.1:c.4921-7C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2138663_2138666del - TSC2_000007 rs137854184 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.*52_*55del, NM_001077183.1:c.*52_*55del, NM_001114382.1:c.*52_*55del r.(=) p.(=)
16 Parent #2 ?/? g.3641280C>T - SLX4_000043 rs140600202 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2359G>A r.(?) p.(Glu787Lys)
16 Parent #2 -/- g.68855966G>A - CDH1_000014 rs35187787 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
16 Parent #2 -?/-? g.89845197G>A - FANCA_000005 rs183513839 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1826+12C>T r.(=) p.(=)
17 Parent #2 +/+ g.41244972del - BRCA1_000208 rs1555589351 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2576del, NM_007297.3:c.2435del, NM_007298.3:c.787+1789del, NM_007299.3:c.787+1789del, NM_007300.3:c.2576del r.(?), r.(=) p.(Asn859Ilefs*34), p.(Asn812Ilefs*34), p.(=)
18 Parent #2 ./. g.43317004C>T - chr18_000002 - - - - - - - Despoina Kalfakakou - - - -
X Parent #2 -?/-? g.14861834T>C - FANCB_000022 rs780116069 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.2435A>G, NM_152633.2:c.2435A>G r.(?) p.(Tyr812Cys)
Legend