Individual #00021411

Reference -
Gender F
Geographic origin Fournoi, Icaria Cyprus
Geographic origin Chios
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     
0000013967 71y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006941 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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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     
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.72360577G>A - PRF1_000009 rs141660796 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.82C>T, NM_005041.4:c.82C>T r.(?) p.(Arg28Cys)
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)
13 Parent #2 -?/-? g.32913420T>C - BRCA2_000155 rs28897731 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4928T>C r.(?) p.(Val1643Ala)
13 Parent #2 -/- g.32930634G>A - BRCA2_000287 rs56070345 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7505G>A r.(?) p.(Arg2502His)
13 Parent #2 +/+ g.32954050G>A - BRCA2_000288 rs28897756 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9117G>A r.(=) p.(=)
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*)
16 Parent #2 -?/-? g.89825107G>C - FANCA_000016 rs149112292 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2859C>G r.(?) p.(Asp953Glu)
16 Parent #2 ?/? g.89858494G>A - FANCA_000228 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1084-18C>T r.(=) p.(=)
17 Parent #2 ?/? g.29528540T>A - NF1_000290 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1260+37T>A, NM_001042492.2:c.1260+37T>A, NM_001128147.2:c.1260+37T>A r.(=) p.(=)
17 Parent #2 -?/-? g.56787203A>G - RAD51C_000037  rs772028189 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.706-17A>G r.(=) p.(=)
19 Parent #2 ?/? g.33792303C>T - CEBPA_000018 rs375833261 - Germline - - - - Despoina Kalfakakou CEBPA - NM_004364.3:c.1018G>A r.(?) p.(Gly340Ser)
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