Individual #00017341

Reference -
Gender F
Geographic origin Karystos, Evia
Geographic origin -
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     
0000009784 46y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001008 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
12 Parent #2 ?/? g.58142357C>T - CDK4_000012 rs761577371 - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.863G>A r.(?) p.(Arg288Gln)
15 Parent #2 -?/-? g.91306241G>A - BLM_000002 rs12720097 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1928G>A r.(?) p.(Arg643His)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
17 Parent #2 ?/? g.17127287C>T - FLCN_000033 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.567G>A, NM_144997.5:c.567G>A r.(=) p.(=)
19 Parent #2 ?/? g.45860830_45860831insG - ERCC2_000010 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1308-30_1308-29insC, NM_001130867.1:c.*1287_*1288insC r.(=) p.(=)
Legend