Individual #00017042

Reference -
Gender F
Geographic origin Kyriaki, Boeotia
Geographic origin Paros
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     
0000009377 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000783 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
4 Parent #2 -/- g.55604597T>A - KIT_000013 rs72549296 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2805T>A, NM_001093772.1:c.2793T>A r.(=) p.(=)
5 Parent #2 +?/+? g.112175211T>A - APC_000005 rs1801155 Low-risk allele Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3920T>A, NM_001127510.2:c.3920T>A, NM_001127511.2:c.3866T>A r.(?) p.(Ile1307Lys), p.(Ile1289Lys)
12 Parent #2 ./. g.112521402G>A - chr12_000004 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -?/-? g.89825056A>G - FANCI_000018 rs144908351 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1573A>G, NM_018193.2:c.1573A>G r.(?) p.(Met525Val)
16 Parent #2 ?/? g.14042178G>A - ERCC4_000020 rs140726146 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2725G>A r.(?) p.(Val909Ile)
17 Parent #2 ?/? g.29676087C>T - NF1_000199 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7127-51C>T, NM_001042492.2:c.7190-51C>T r.(=) p.(=)
17 Parent #2 -?/-? g.56772522G>A - RAD51C_000007 rs61758784 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 -?/-? g.56780540G>T - RAD51C_000004 rs193023469 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
Legend