Individual #00016130

Reference -
Gender F
Geographic origin Xyrochori, Olympia
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel ID 00016129
Panel size 1
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004946 DNA SEQ 0 BRCA1 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 Maternal (confirmed) +/+ g.41245044dup - BRCA1_000040 - - Germline ? - - No Despoina Kalfakakou BRCA1 - NM_007294.3:c.2504dup, NM_007297.3:c.2363dup, NM_007298.3:c.787+1717dup, NM_007299.3:c.787+1717dup, NM_007300.3:c.2504dup r.(?), r.(=) p.(His835Glnfs*2), p.(His788Glnfs*2), p.(=)
Legend