Individual #00017307

Reference -
Gender F
Geographic origin Phthiotis
Geographic origin Lilaia, Phocis
Population Greek
Consanguinity no
Remarks -
Panel ID 00017306
Panel size 3
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000009746 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005231 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 Maternal (confirmed) +/+ g.108236086C>T - ATM_000135 rs587782292 - Germline ? - - - Despoina Kalfakakou ATM - NM_000051.3:c.9022C>T r.(?) p.(Arg3008Cys)
Legend