Individual #00016949

Reference -
Gender F
Geographic origin Crete
Geographic origin Piraeus
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     
0000009237 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000715 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     
2 Parent #2 ?/? g.47637423A>G - MSH2_000047 rs151129360 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.557A>G, NM_001258281.1:c.359A>G r.(?) p.(Asn186Ser), p.(Asn120Ser)
3 Parent #2 ?/? g.10094071G>T - FANCD2_000080 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1546G>T, NM_033084.3:c.1546G>T r.(?) p.(Gly516Cys)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
3 Parent #2 -?/-? g.37067096_37067103del - MLH1_000058 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del 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.176636958G>A - NSD1_000038 rs559617787 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1558G>A, NM_172349.2:c.751G>A r.(?) p.(Ala520Thr), p.(Ala251Thr)
8 Parent #2 -?/-? g.90993640C>T - NBN_000012 rs61753720 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.283G>A r.(?) p.(Asp95Asn)
13 Parent #2 ?/? g.32929137T>C - BRCA2_000101 rs1450006002 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7147T>C r.(?) p.(Tyr2383His)
16 Parent #2 -/- g.2106725C>G - TSC2_000043 rs45473698 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.729C>G, NM_001077183.1:c.729C>G, NM_001114382.1:c.729C>G r.(=) p.(=)
17 Parent #2 ?/? g.41244859G>A - BRCA1_000060 rs770583134 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2689C>T, NM_007297.3:c.2548C>T, NM_007298.3:c.788-1810C>T, NM_007299.3:c.788-1810C>T, NM_007300.3:c.2689C>T r.(?), r.(=) p.(Pro897Ser), p.(Pro850Ser), p.(=)
Legend