Individual #00018911

Reference -
Gender F
Geographic origin Pontus
Geographic origin Asia Minor
Population Greek
Consanguinity no
Remarks -
Panel ID 00015349
Panel size 6
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     
0000004660 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.41246040_41246044del - BRCA1_000082 rs80357888 - Germline ? - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1504_1508del, NM_007297.3:c.1363_1367del, NM_007298.3:c.787+717_787+721del, NM_007299.3:c.787+717_787+721del, NM_007300.3:c.1504_1508del r.(?), r.(=) p.(Leu502Alafs*2), p.(Leu455Alafs*2), p.(=)
Legend