Individual #00021779

Reference -
Gender F
Geographic origin Assos, Corinthia
Geographic origin Vrachati, Corinthia
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     
0000013704 57y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002057 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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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.233164817G>A - DIS3L2_000011 rs200386096 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1581+36745G>A, NM_152383.4:c.1727G>A r.(=), r.(?) p.(=), p.(Arg576His)
2 Parent #2 -?/-? g.233199400C>T - DIS3L2_000101 rs377740097 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8655C>T, NM_152383.4:c.2349C>T r.(=) p.(=)
2 Parent #2 ?/? g.233199473G>A - DIS3L2_000004 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
4 Parent #2 ?/? g.55524280C>T - KIT_000027 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.67+32C>T, NM_001093772.1:c.67+32C>T r.(=) p.(=)
8 Parent #2 ?/? g.30982023G>A - WRN_000118 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2631-15G>A r.(=) p.(=)
8 Parent #2 ./. g.129192232G>A - chr8_000017 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32893207T>A - BRCA2_000028 rs81002830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-7T>A r.(=) p.(=)
16 Parent #2 -/- g.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 -/- g.3645724C>T - SLX4_000019 rs149916101 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 -/- g.3646275C>T - SLX4_000001 rs144892556 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 -/- g.3646323G>A - SLX4_000002 rs114016359 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89815060C>A - FANCA_000038 rs185527578 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+7G>T r.(=) p.(=)
19 Parent #2 ?/? g.45856397C>T - ERCC2_000116 rs147224585 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1775G>A r.(?) p.(Arg592His)
19 Parent #2 +?/+? g.45868387del - ERCC2_000115 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.390del, NM_001130867.1:c.318del r.(?) p.(Asp131Metfs*50), p.(Asp107Metfs*50)
22 Parent #2 +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
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