Individual #00017519

Reference -
Gender F
Geographic origin Patra
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     
0000010002 31y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001172 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.128199889C>T - GATA2_000005 rs376805544 - Germline - - - - Despoina Kalfakakou GATA2 - NM_001145661.1:c.1416G>A, NM_001145662.1:c.1374G>A, NM_032638.4:c.1416G>A r.(=) p.(=)
8 Parent #2 -?/-? g.31030535C>T - WRN_000017 rs11574410 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.4216C>T r.(?) p.(Arg1406*)
8 Parent #2 -?/-? g.90982669T>A - NBN_000039 rs147660518 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.819A>T r.(=) p.(=)
12 Parent #2 ?/? g.121437391C>G - HNF1A_000036 rs376832928 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1729C>G r.(?) p.(His577Asp)
12 Parent #2 ?/? g.121437407A>G - HNF1A_000037 rs193922589 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1745A>G r.(?) p.(His582Arg)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.3658545C>A - SLX4_000056 rs137976282 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.421G>T r.(?) p.(Gly141Trp)
Legend