Individual #00021910

Reference -
Gender F
Geographic origin Domokos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00021908
Panel size 11
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     
0000007467 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.41197790C>T [Papamentzelopoulou et al. 2019] BRCA1_000015 rs80357268 - Germline - - - Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5497G>A, NM_007297.3:c.5356G>A, NM_007298.3:c.2185G>A, NM_007299.3:c.*11G>A, NM_007300.3:c.5560G>A r.(?), r.(=) p.(Val1833Met), p.(Val1786Met), p.(Val729Met), p.(=), p.(Val1854Met)
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