Individual #00020562

Reference -
Gender F
Geographic origin Kanalaki, Preveza
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00020560
Panel size 3
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     
0000005941 DNA MLPA 1 FLCN 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.(?_17117107)_(17117107_17118313)del - FLCN_000061 - Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - FLCN exon 14 deletion - - Despoina Kalfakakou FLCN 14, NM_144606.5:c.(?), NM_144997.5:c.(?) r.(?) p.(?)
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