Individual #00021374

Reference -
Gender F
Geographic origin Skopelos
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000013571 52y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007354 DNA SEQ-NG-I 1 - 43 Despoina Kalfakakou



Variants

43 entries on 1 page. Showing entries 1 - 43.
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.111797434A>C - chr2_000029 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.177042633A>C - chr2_000036 rs2072590 - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 -/- g.10106532C>T - FANCD2_000162 rs3864017 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2141C>T, NM_033084.3:c.2141C>T r.(?) p.(Pro714Leu)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
3 Parent #2 ./. g.151899704T>A - chr3_000039 rs161792 - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.1734281A>G - chr4_000025 rs798767 - - - - - - Despoina Kalfakakou - - - -
5 Both (homozygous) ./. g.1288547T>C - chr5_000051 rs2853676 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.1895841C>T - chr5_000052 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.22125964T>C - chr6_000092 rs4712653 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.29906691A>G - chr6_000094 rs2860580 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29918073G>A - chr6_000089 rs9260377 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.29918099G>T - chr6_000090 rs2517713 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.29918124C>T - chr6_000091 rs9260379 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32428285C>T - chr6_000096 rs6903608 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32678999A>G - chr6_000084 rs9275572 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -/- g.66459256T>C - SBDS_000032 rs1061695 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.201A>G r.(=) p.(=)
8 Parent #2 ./. g.128103937T>C - chr8_000051 rs1456315 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128485038A>C - chr8_000053 rs1447295 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128517573A>G - chr8_000052 rs4242382 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128718068G>T - chr8_000054 rs9642880 - - - - - - Despoina Kalfakakou - - - -
9 Both (homozygous) ./. g.100556109A>G - chr9_000034 rs965513 - - - - - - Despoina Kalfakakou - - - -
9 Both (homozygous) ./. g.110888478G>T - chr9_000035 rs865686 - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -/- g.88683209T>G - BMPR1A_000005 rs145756629 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1419T>G r.(=) p.(=)
10 Parent #2 -?/-? g.104359297G>T - SUFU_000001 rs34135067 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
11 Parent #2 ./. g.2233574A>G - chr11_000044 rs7127900 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.2233609G>A - chr11_000043 rs7112959 - - - - - - Despoina Kalfakakou - - - -
11 Both (homozygous) ./. g.56175671C>G - chr11_000046 rs1945213 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.64575156del - MEN1_000036 rs748005956 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.670-4del, NM_130799.2:c.655-4del, NM_130800.2:c.670-4del, NM_130801.2:c.670-4del, NM_130802.2:c.670-4del, NM_130803.2:c.670-4del, NM_130804.2:c.670-4del r.spl? p.?
12 Parent #2 ./. g.49676010T>C - chr12_000030 rs10875943 - - - - - - Despoina Kalfakakou - - - -
13 Both (homozygous) ./. g.24127240C>T - chr13_000014 rs1572073 - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 +/+ g.32911136del - BRCA2_000290 rs1555282764 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.2644del r.(?) p.(Leu882Phefs*13)
13 Parent #2 -/- g.32968810T>C - BRCA2_000013 rs11571818 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 -/- g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
14 Parent #2 ?/? g.65568303_65568304insG - MAX_000018 - - Germline - - - - Despoina Kalfakakou MAX - NM_001271068.1:c.36+718_36+719insC, NM_001271069.1:c.36+718_36+719insC, NM_002382.4:c.37-14_37-13insC, NM_145112.2:c.36+718_36+719insC, NM_145113.2:c.37-14_37-13insC, NM_145114.2:c.37-14_37-13insC, NM_197957.3:c.37-14_37-13insC r.(=) p.(=)
15 Both (homozygous) ./. g.32994777C>T - chr15_000028 rs4779585 - - - - - - Despoina Kalfakakou - - - -
15 Parent #1 ?/? g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+42_975+43insG, NM_018193.2:c.975+42_975+43insG r.(=) p.(=)
15 Parent #2 ?/? g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.975+43del, NM_018193.2:c.975+43del r.(=) p.(=)
15 Parent #2 -/- g.89838176T>G - FANCI_000010 rs145762491 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
16 Both (homozygous) ./. g.89755903A>G - chr16_000024 rs258322 - - - - - - Despoina Kalfakakou - - - -
16 Both (homozygous) ./. g.90066936A>C - chr16_000023 rs4785763 - - - - - - Despoina Kalfakakou - - - -
18 Both (homozygous) ./. g.46453463T>C - chr18_000007 rs4939827 - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 ./. g.51364623A>G - chr19_000020 rs2735839 - - - - - - Despoina Kalfakakou - - - -
Legend