Individual #00016812

Reference -
Gender F
Geographic origin Doksato, Drama
Geographic origin Zigos, Kavala
Population Greek
Consanguinity no
Remarks -
Panel ID 00016811
Panel size 2
Diseases OVCA
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005123 DNA SEQ 0 CHEK2 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     
22 Parent #2 +?/+? g.29121058C>T - CHEK2_000024 rs72552322 - Germline ? - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.628G>A, NM_001257387.1:c.-279G>A, NM_007194.3:c.499G>A, NM_145862.2:c.499G>A r.(=), r.(?) p.(Gly210Arg), p.(=), p.(Gly167Arg)
Legend