Individual #00021865

Reference -
Gender F
Geographic origin Nea Figaleia, Elis
Geographic origin Taxiarchis, Olympia
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     
0000013803 61y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002182 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
Legend  

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     
5 Parent #2 -/- g.176707724C>G - NSD1_000002 rs61749654 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.5781C>G, NM_172349.2:c.4974C>G r.(=) p.(=)
8 Parent #2 ?/? g.145736958C>T - RECQL4_000218 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3504-20G>A - p.?
8 Parent #2 ?/? g.145737373C>T - RECQL4_000021 rs36078464 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3315G>A - p.?
8 Parent #2 ?/? g.145738566C>T - RECQL4_000037 rs36115640 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
8 Parent #2 -/- g.145741413C>T - RECQL4_000216 rs144637135 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1090G>A - p.?
8 Parent #2 -/- g.145742816G>C - RECQL4_000217 rs369163654 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.195C>G - p.?
11 Parent #2 -?/-? g.61213555C>T - SDHAF2_000003 rs113652589 - Germline - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.*12C>T r.(=) p.(=)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
13 Parent #2 ?/? g.32929392G>A - BRCA2_000058 rs730881553 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7402G>A r.(?) p.(Val2468Ile)
13 Parent #2 -/- g.32937488G>T - BRCA2_000063 rs28897747 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8149G>T r.(?) p.(Ala2717Ser)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
17 Parent #2 ?/? g.59938770A>G - BRIP1_000078 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.93+38T>C r.(=) p.(=)
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=) p.(=)
22 Parent #2 +?/+? g.29121242G>A - CHEK2_000025 rs137853007 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.562C>T, NM_001257387.1:c.-345C>T, NM_007194.3:c.433C>T, NM_145862.2:c.433C>T r.(=), r.(?) p.(Arg188Trp), p.(=), p.(Arg145Trp)
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