Individual #00021843

Reference -
Gender F
Geographic origin Sitomena, 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     
0000014009 77y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002150 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
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     
10 Parent #2 ?/? g.88672188T>C - BMPR1A_000025 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.675+47T>C r.(=) p.(=)
16 Parent #2 ?/? g.3640264G>C - SLX4_000162 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3375C>G r.(?) p.(Asp1125Glu)
16 Parent #2 ?/? g.50820730A>G - CYLD_000040 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.1941-36A>G, NM_001042412.1:c.1941-36A>G, NM_015247.2:c.1950-36A>G r.(=) p.(=)
17 Parent #2 -/- g.74469185C>T - RHBDF2_000007 rs138683747 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
Legend