Individual #00020047

Reference -
Gender M
Geographic origin Thessaloniki
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00020045
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     
0000006312 DNA SEQ 0 APC 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     
5 Paternal (confirmed) +/+ g.112174474_112174478del Fostira et al (2010) APC_000161 rs587779352 - Germline ? - - - Despoina Kalfakakou APC - NM_000038.5:c.3183_3187del, NM_001127510.2:c.3183_3187del, NM_001127511.2:c.3129_3133del r.(?) p.(Gln1062*), p.(Gln1044*)
Legend