Individual #00016745

Reference -
Gender F
Geographic origin Poulitsio, Messinia
Geographic origin Manesi, Messinia
Population Greek
Consanguinity no
Remarks -
Panel ID 00016743
Panel size 3
Diseases TRC
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005099 DNA MLPA 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 Parent #2 +/+ g.(41267773_41276097)_(41278204_41282088)del - BRCA1_000229 - Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - BRCA1 exons 1-2 deletion - - Despoina Kalfakakou BRCA1 1_2, NM_007294.3:c.(?), NM_007297.3:c.(?), NM_007298.3:c.(?), NM_007299.3:c.(?), NM_007300.3:c.(?) r.(?) p.(?)
Legend