Individual #00018856

Reference -
Gender F
Geographic origin Edessa
Geographic origin Izmir
Population Greek
Consanguinity no
Remarks -
Panel ID 00014829
Panel size 2
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     
0000002199 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 Maternal (confirmed) +?/+? g.29121087A>G - CHEK2_000007 rs17879961 Low risk allele Germline no - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.599T>C, NM_001257387.1:c.-308T>C, NM_007194.3:c.470T>C, NM_145862.2:c.470T>C r.(=), r.(?) p.(Ile200Thr), p.(=), p.(Ile157Thr)
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