Individual #00021860

Reference -
Gender F
Geographic origin Burgas, Bulgaria
Geographic origin Bulgaria
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     
0000013800 61y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002176 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
3 Parent #2 ?/? g.37070316A>G - MLH1_000123 rs876659795 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1451A>G, NM_001167617.1:c.1157A>G, NM_001167618.1:c.728A>G, NM_001167619.1:c.728A>G, NM_001258271.1:c.1451A>G, NM_001258273.1:c.728A>G, NM_001258274.1:c.728A>G r.(?) p.(Asp484Gly), p.(Asp386Gly), p.(Asp243Gly)
7 Parent #2 ?/? g.55223682G>A - EGFR_000085 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1006+43G>A, NM_201282.1:c.1006+43G>A, NM_201283.1:c.1006+43G>A, NM_201284.1:c.1006+43G>A r.(=) p.(=)
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.44146294C>T - EXT2_000028 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.843-45C>T, NM_001178083.1:c.744-45C>T, NM_207122.1:c.744-45C>T r.(=) p.(=)
13 Parent #2 -?/-? g.49039095del - RB1_000023 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ?/? g.49039095dup - RB1_000022 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
15 Parent #2 ./. g.78806072G>T - chr15_000002 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29684427G>A - NF1_000271 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7907+40G>A, NM_001042492.2:c.7970+40G>A r.(=) p.(=)
17 Parent #2 +?/+? g.59876460C>A - BRIP1_000079 rs1555607022 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1340+1G>T r.spl? p.?
18 Parent #2 ./. g.43317004C>T - chr18_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend