Individual #00018893

Reference -
Gender F
Geographic origin -
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00015135
Panel size 1
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     
0000004577 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.41243844_41243848del - BRCA1_000046 rs80357609 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3700_3704del, NM_007297.3:c.3559_3563del, NM_007298.3:c.788-799_788-795del, NM_007299.3:c.788-799_788-795del, NM_007300.3:c.3700_3704del r.(?), r.(=) p.(Val1234Glnfs*8), p.(Val1187Glnfs*8), p.(=)
Legend