Individual #00015559

Reference -
Gender F
Geographic origin Sofiko, Corinth
Geographic origin Preveza
Population Greek
Consanguinity no
Remarks -
Panel ID 00015556
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     
0000006850 DNA SEQ-NG-I - - 1 Despoina Kalfakakou



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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.29091177T>C - CHEK2_000046 - - Germline ? - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1442A>G, NM_001257387.1:c.650A>G, NM_007194.3:c.1313A>G, NM_145862.2:c.1226A>G r.(?) p.(Asp481Gly), p.(Asp217Gly), p.(Asp438Gly), p.(Asp409Gly)
Legend