Individual #00021647

Reference -
Gender F
Geographic origin Pontus
Geographic origin Thessaloniki
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     
0000013510 49y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007450 DNA SEQ-NG-I 1 - 26 Despoina Kalfakakou



Variants

26 entries on 1 page. Showing entries 1 - 26.
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 Both (homozygous) ./. g.177042633A>C - chr2_000036 rs2072590 - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ?/? g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - Despoina Kalfakakou BARD1 - NM_000465.2:c.158+1590C>A r.(=) p.(=)
3 Parent #2 ./. g.151899704T>A - chr3_000039 rs161792 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.22125964T>C - chr6_000092 rs4712653 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32428285C>T - chr6_000096 rs6903608 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32678999A>G - chr6_000084 rs9275572 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.30969170A>G - WRN_000009 rs180814740 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2128A>G r.(?) p.(Ile710Val)
8 Parent #2 ./. g.128103937T>C - chr8_000051 rs1456315 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128323181T>C - chr8_000050 rs445114 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128485038A>C - chr8_000053 rs1447295 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128517573A>G - chr8_000052 rs4242382 - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.100556109A>G - chr9_000034 rs965513 - - - - - - Despoina Kalfakakou - - - -
9 Both (homozygous) ./. g.110888478G>T - chr9_000035 rs865686 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.2233574A>G - chr11_000044 rs7127900 - - - - - - Despoina Kalfakakou - - - -
11 Both (homozygous) ./. g.56175671C>G - chr11_000046 rs1945213 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.69328764C>T - chr11_000045 rs614367 - - - - - - Despoina Kalfakakou - - - -
11 Both (homozygous) ./. g.118477367A>G - chr11_000047 rs498872 - - - - - - Despoina Kalfakakou - - - -
12 Parent #2 ./. g.49676010T>C - chr12_000030 rs10875943 - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
16 Both (homozygous) ./. g.89755903A>G - chr16_000024 rs258322 - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -/- g.89833576G>C - FANCA_000239 rs17233141 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2574C>G r.(?) p.(Ser858Arg)
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 - - - -
X Parent #2 -/- g.132826404C>T - GPC3_000010 rs11539789 - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1354G>A, NM_001164618.1:c.1237G>A, NM_001164619.1:c.1123G>A, NM_004484.3:c.1285G>A r.(?) p.(Val452Met), p.(Val413Met), p.(Val375Met), p.(Val429Met)
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