Individual #00021468

Reference -
Gender F
Geographic origin Eora, Xanthi, Pomaks
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     
0000013669 56y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006959 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     
3 Parent #2 -?/-? g.10183714C>G - VHL_000004 rs63650860 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.183C>G, NM_198156.2:c.183C>G r.(=) p.(=)
3 Parent #2 -?/-? g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.501G>A r.(=) p.(=)
6 Parent #2 ?/? g.35420417C>A - FANCE_000015 rs924383249 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.95C>A r.(?) p.(Ala32Glu)
6 Parent #2 -/- g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
10 Parent #2 +/+ g.72358622_72358624del - PRF1_000040 - - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.853_855del, NM_005041.4:c.853_855del r.(?) p.(Lys285del)
11 Parent #2 ?/? g.95546153G>A - CEP57_000042 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.233G>A, NM_001243777.1:c.260G>A, NM_014679.4:c.260G>A r.(?) p.(Arg78Lys), p.(Arg87Lys)
16 Parent #2 -/- g.2103392A>T - TSC2_000059 rs137853994 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.275A>T, NM_001077183.1:c.275A>T, NM_001114382.1:c.275A>T r.(?) p.(Glu92Val)
16 Parent #2 -/- g.2121911C>T - TSC2_000017 rs45512398 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2073C>T, NM_001077183.1:c.2073C>T, NM_001114382.1:c.2073C>T r.(=) p.(=)
17 Parent #2 +/+ g.41209080dupG [Konstantopoulou et al. 2007], [Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000050 rs80357906 - Germline - - Thrace, Macedonia, Thessalia Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5266dupC, NM_007297.3:c.5125dupC, NM_007298.3:c.1954dupC, NM_007299.3:c.1954dupC, NM_007300.3:c.5329dupC r.(?) p.(Gln1756Profs*74), p.(Gln1709Profs*74), p.(Gln652Profs*74), p.(Gln652Profs*54), p.(Gln1777Profs*74)
17 Parent #2 ?/? g.66519085A>G - PRKAR1A_000032 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.348+18A>G, NM_001276290.1:c.348+18A>G, NM_002734.4:c.348+18A>G, NM_212471.2:c.348+18A>G, NM_212472.2:c.348+18A>G r.(=) p.(=)
17 Parent #2 ?/? g.74475935C>G - RHBDF2_000073 rs145785567 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.152G>C, NM_024599.5:c.239G>C r.(?) p.(Arg51Thr), p.(Arg80Thr)
18 Parent #2 -/- g.48604848C>T - SMAD4_000004 rs11663402 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.*11C>T r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
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