Individual #00021233

Reference -
Gender M
Geographic origin Athens
Geographic origin England
Population Greek
Consanguinity no
Remarks -
Panel ID 00021231
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     
0000007275 DNA SEQ 0 BRCA1 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
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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.41245722_41245725del - BRCA1_000210 rs80357952 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1823_1826del, NM_007297.3:c.1682_1685del, NM_007298.3:c.787+1036_787+1039del, NM_007299.3:c.787+1036_787+1039del, NM_007300.3:c.1823_1826del r.(?), r.(=) p.(Lys608Ilefs*3), p.(Lys561Ilefs*3), p.(=)
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