Individual #00016125

Reference -
Gender F
Geographic origin Sitomena, Aetolia-Acarnania
Geographic origin Malevro, 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     
0000008059 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000034 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
2 Parent #2 ?/? g.233199473G>A - DIS3L2_000004 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
3 Parent #2 ?/? g.52443684G>A - BAP1_000009 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.67+46C>T r.(=) p.(=)
7 Parent #2 ?/? g.6035313T>C - PMS2_000007 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.804-49A>G r.(=) p.(=)
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)
12 Parent #2 ?/? g.58143266A>G - CDK4_000002 - - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.654T>C r.(=) p.(=)
Legend