Individual #00016454

Reference -
Gender M
Geographic origin Lefkada
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00016451
Panel size 4
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     
0000005042 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 (inferred) +/+ g.41199660C>T [Konstantopoulou et al. 2013], [Armaou et al 2009] BRCA1_000056 rs80357212 - Germline ? - - Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5467G>A, NM_007297.3:c.5326G>A, NM_007298.3:c.2155G>A, NM_007299.3:c.2081G>A, NM_007300.3:c.5530G>A r.(?) p.(Ala1823Thr), p.(Ala1776Thr), p.(Ala719Thr), p.(Cys694Tyr), p.(Ala1844Thr)
Legend