Individual #00021698

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     

OvCa FH     

Subtype     

Owner     
0000013796 61y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001911 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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     
1 Parent #2 ?/? g.193121497del - CDC73_000038 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.908-13del r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
8 Parent #2 ./. g.130491704G>A - chr8_000044 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145739135G>T - RECQL4_000083 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-39C>A - p.?
10 Parent #2 ?/? g.72360605G>A - PRF1_000011 rs762553478 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.54C>T, NM_005041.4:c.54C>T r.(=) p.(=)
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -/- g.95546226G>C - CEP57_000002 rs117321017 - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.306G>C, NM_001243777.1:c.333G>C, NM_014679.4:c.333G>C r.(?) p.(Gln102His), p.(Gln111His)
12 Parent #2 ?/? g.58145248T>A - CDK4_000013 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.218+35A>T r.(=) p.(=)
13 Parent #2 +/+ g.32914800C>G - BRCA2_000214 rs80358870 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.6308C>G r.(?) p.(Ser2103*)
15 Parent #2 ./. g.78908082del - chr15_000013 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #1 ./. g.78908082dup - chr15_000012 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.89807130A>G - FANCI_000121 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.546-4A>G, NM_018193.2:c.546-4A>G r.spl? p.?
16 Parent #2 -?/-? g.2112558G>A - TSC2_000093 rs45484298 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1318G>A, NM_001077183.1:c.1318G>A, NM_001114382.1:c.1318G>A r.(?) p.(Gly440Ser)
16 Parent #2 -?/-? g.14028081C>T - ERCC4_000013 rs1799802 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1135C>T r.(?) p.(Pro379Ser)
16 Parent #2 ?/? g.89882393C>T - FANCA_000129 rs150247726 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.81G>A, NM_001018112.1:c.81G>A r.(=) p.(=)
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