Individual #00021302

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     
0000013518 50y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006837 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.48026172C>T - MSH6_000020 rs730881802 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.1050C>T, NM_001281492.1:c.660C>T, NM_001281493.1:c.144C>T, NM_001281494.1:c.144C>T r.(=) p.(=)
5 Parent #2 -?/-? g.112111362G>A - APC_000122 rs864622482 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.459G>A, NM_001127510.2:c.459G>A, NM_001127511.2:c.489G>A r.(=) p.(=)
5 Parent #2 -?/-? g.112178112C>T - APC_000043 rs34919187 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.6821C>T, NM_001127510.2:c.6821C>T, NM_001127511.2:c.6767C>T r.(?) p.(Ala2274Val), p.(Ala2256Val)
9 Parent #2 ?/? g.98241237T>C - PTCH1_000072 rs368425450 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1215+45A>G, NM_001083602.1:c.1017+45A>G, NM_001083603.1:c.1212+45A>G, NM_001083604.1:c.762+45A>G, NM_001083605.1:c.762+45A>G, NM_001083606.1:c.762+45A>G, NM_001083607.1:c.762+45A>G r.(=) p.(=)
10 Parent #2 ?/? g.43613908A>T - RET_000003 rs77724903 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
11 Parent #2 -/- g.22647209G>A - FANCF_000014 rs577253174 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.148C>T r.(?) p.(Arg50Trp)
11 Parent #2 ?/? g.67257767C>G - AIP_000035 - - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.646-20C>G r.(=) p.(=)
16 Parent #2 ?/? g.2136886C>T - TSC2_000083 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4989+14C>T, NM_001077183.1:c.4788+14C>T, NM_001114382.1:c.4920+14C>T r.(=) p.(=)
16 Parent #2 ?/? g.3648025T>C - SLX4_000168 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1164-25A>G r.(=) p.(=)
16 Parent #2 ?/? g.3658703_3658705del - SLX4_000057 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.261_263del r.(?) p.(Arg87del)
16 Parent #2 ?/? g.89805745T>A - FANCA_000118 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4011-48A>T r.(=) p.(=)
16 Parent #2 -?/-? g.89882965C>T - FANCA_000111 rs376307136 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.59G>A, NM_001018112.1:c.59G>A r.(?) p.(Arg20Lys)
17 Parent #2 +/+ g.41258504A>C [Konstantopoulou et al. 2013] BRCA1_000014 rs28897672 - Germline - C61G - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.181T>G, NM_007297.3:c.40T>G, NM_007298.3:c.181T>G, NM_007299.3:c.181T>G, NM_007300.3:c.181T>G r.(?) p.(Cys61Gly), p.(Cys14Gly)
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