Individual #00017412

Reference -
Gender F
Geographic origin Mitikas, Evia
Geographic origin Pefkochori, Phthiotis
Population Greek
Consanguinity no
Remarks -
Panel ID 00017411
Panel size 6
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     
0000005235 DNA SEQ 0 ATM 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     
11 Paternal (confirmed) +/+ g.108122611del - ATM_000142 rs1057516876 - Germline ? - - - Despoina Kalfakakou ATM - NM_000051.3:c.1655del r.(?) p.(Pro552Glnfs*4)
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