Individual #00021674

Reference -
Gender F
Geographic origin Alevrada, AetoliaAcarnania
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     
0000013530 50y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001879 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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.37067103T>A - MLH1_000008 rs764852270 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-25T>A, NM_001167617.1:c.745-25T>A, NM_001167618.1:c.316-25T>A, NM_001167619.1:c.316-25T>A, NM_001258271.1:c.1039-25T>A, NM_001258273.1:c.316-25T>A, NM_001258274.1:c.316-25T>A r.(=) p.(=)
6 Parent #2 -/- g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
8 Parent #2 ?/? g.30948094_30948095del - WRN_000005 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1720+46_1720+47del r.(=) p.(=)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 -?/-? g.41245589T>C - BRCA1_000136 - - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1959A>G, NM_007297.3:c.1818A>G, NM_007298.3:c.787+1172A>G, NM_007299.3:c.787+1172A>G, NM_007300.3:c.1959A>G r.(=) p.(=)
Legend