Individual #00014781

Reference -
Gender F
Geographic origin Nafpaktos
Geographic origin Astakos, Aetolia-Acarnania
Population Greek
Consanguinity no
Remarks -
Panel size 1
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     
0000009205 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005363 DNA SEQ-NG-I 1 - 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     
8 Parent #2 +/+ g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline ? - - - Despoina Kalfakakou NBN - NM_002485.4:c.657_661del r.(?) p.(Lys219Asnfs*16)
Legend