Individual #00019861

Reference -
Gender F
Geographic origin Derveni, Corinthia
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel ID 00019860
Panel size 1
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     
0000006205 DNA SEQ 0 ATM 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     
11 Paternal (confirmed) +/+ g.108119809del Fostira et al (2020)  ATM_000053 rs1555069815 - Germline ? - - - Despoina Kalfakakou ATM - NM_000051.3:c.1215del r.(?) p.(Asn405Lysfs*15)
Legend