Individual #00021853

Reference -
Gender F
Geographic origin Kastoria
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     
0000013211 26y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002167 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
1 Parent #2 ?/? g.193121485A>G - CDC73_000009 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.908-25A>G r.(=) p.(=)
2 Parent #2 ?/? g.128051345C>A - ERCC3_000013 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.29-51G>T r.(=) p.(=)
4 Parent #2 -?/-? g.55524168T>A - KIT_000001 rs140909964 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.-14T>A, NM_001093772.1:c.-14T>A r.(=) p.(=)
6 Parent #2 ./. g.29918140G>A - chr6_000018 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -?/-? g.145737560G>A - RECQL4_000214 rs764423233 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3204C>T - p.?
8 Parent #2 -/- g.145739905G>A - RECQL4_000193 rs369852601 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1625C>T - p.?
16 Parent #2 ?/? g.2136922_2136923insT - TSC2_000219 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4989+50_4989+51insT, NM_001077183.1:c.4788+50_4788+51insT, NM_001114382.1:c.4920+50_4920+51insT r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ?/? g.89809313G>A - FANCA_000213 rs751703958 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3660C>T r.(=) p.(=)
17 Parent #2 ?/? g.59876546G>A - BRIP1_000028 rs150624408 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1255C>T r.(?) p.(Arg419Trp)
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)
Legend