Individual #00021757

Reference -
Gender F
Geographic origin Mesolakia, Serres
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000013871 65y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007455 DNA SEQ 1 RAD51D 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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     
17 Parent #2 +/+ g.33430272C>T Konstanta et al (2018) RAD51D_000033 rs1567726124 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.798+1G>A, NM_002878.3:c.738+1G>A, NM_133629.2:c.402+1G>A r.spl? p.Val246fsTer92, p.?
Legend