Individual #00017597

Reference -
Gender F
Geographic origin Karditsa
Geographic origin Kastria, Kalavryta
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     
0000010121 31y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001261 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
1 Parent #2 ?/? g.241683033G>A - FH_000027 rs200942733 - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.-11C>T r.(=) p.(=)
2 Parent #2 -?/-? g.47630549C>T - MSH2_000063 rs267607916 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.211+8C>T, NM_001258281.1:c.13+8C>T r.(=) p.(=)
3 Parent #2 ?/? g.10074537C>T - FANCD2_000103 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.86C>T, NM_033084.3:c.86C>T r.(?) p.(Ser29Phe)
7 Parent #2 +/+ g.116339565C>T - MET_000048 rs779093896 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.427C>T, NM_001127500.1:c.427C>T r.(?) p.(Arg143*)
9 Parent #2 ?/? g.135777958C>T - TSC1_000002 - - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2391+34G>A, NM_001162426.1:c.2388+34G>A, NM_001162427.1:c.2238+34G>A r.(=) p.(=)
11 Parent #2 ?/? g.108196041G>A - ATM_000161 rs754555043 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6577G>A r.(?) p.(Val2193Ile)
13 Parent #2 -/- g.32893207T>A - BRCA2_000028 rs81002830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-7T>A r.(=) p.(=)
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.3640715G>A - SLX4_000018 rs114472821 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 ?/? g.14026187A>G - ERCC4_000012 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1102+45A>G r.(=) p.(=)
Legend