Individual #00015942

Reference -
Gender F
Geographic origin Chios
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00015941
Panel size 2
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004870 DNA SEQ 0 BRCA2 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     
13 Maternal (confirmed) +/+ g.32914283C>T - BRCA2_000134 rs80358807 - Germline ? - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5791 C>T r.(?) p.(Gln1931*)
Legend