Individual #00021872

Reference -
Gender F
Geographic origin Kokkino Chorio, Chania
Geographic origin Gavalohori, Chania
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     
0000013930 68y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002194 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
2 Parent #2 ?/? g.128017009C>T - ERCC3_000009 rs151216904 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2080G>A r.(?) p.(Ala694Thr)
2 Parent #2 ?/? g.232879736A>T - DIS3L2_000007 rs78129899 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.52+47A>T, NM_001257282.1:c.52+47A>T, NM_152383.4:c.52+47A>T r.(=) p.(=)
2 Parent #2 ?/? g.232995468T>G - DIS3L2_000014 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+39T>G, NM_001257282.1:c.741T>G, NM_152383.4:c.702+39T>G r.(=) p.(=)
2 Parent #2 ?/? g.233199477A>G - DIS3L2_000005 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8578A>G, NM_152383.4:c.2394+32A>G r.(=) p.(=)
3 Parent #2 -/- g.10088285T>G - FANCD2_000098 rs149125003 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1156T>G, NM_033084.3:c.1156T>G r.(?) p.(Phe386Val)
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 -/- g.45606290C>T - FANCM_000011 rs77374493 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
15 Parent #2 ?/? g.89801904C>G - FANCI_000111 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.85-31C>G, NM_018193.2:c.85-31C>G r.(=) p.(=)
15 Parent #2 ?/? g.89802032G>C - FANCI_000112 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.157+25G>C, NM_018193.2:c.157+25G>C r.(=) p.(=)
16 Parent #2 -/- g.68867247G>A - CDH1_000025 rs35572355 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2494G>A r.(?) p.(Val832Met)
17 Parent #2 ?/? g.41256111A>G - BRCA1_000156 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.441+28T>C, NM_007297.3:c.300+28T>C, NM_007298.3:c.441+28T>C, NM_007299.3:c.441+28T>C, NM_007300.3:c.441+28T>C r.(=) p.(=)
17 Parent #2 -?/-? g.59853755C>T - BRIP1_000022 rs4988352 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2097+7G>A r.(=) p.(=)
22 Parent #2 -?/-? g.30070923C>T - NF2_000042 rs145666157 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1439C>T, NM_016418.5:c.1439C>T, NM_181825.2:c.1439C>T, NM_181828.2:c.1313C>T, NM_181829.2:c.1316C>T, NM_181830.2:c.1190C>T, NM_181831.2:c.1190C>T, NM_181832.2:c.1439C>T, NM_181833.2:c.448-19818C>T r.(?), r.(=) p.(Thr480Met), p.(Thr438Met), p.(Thr439Met), p.(Thr397Met), p.(=)
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