Individual #00017090

Reference -
Gender F
Geographic origin Agrinio
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     
0000009434 40y - - - - Despoina Kalfakakou
0000009435 32y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000814 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.193202204G>A - CDC73_000017 rs757006970 - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.1236G>A r.(?) p.(Met412Ile)
2 Parent #2 ./. g.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ?/? g.48025785A>C - MSH6_000028 rs41557217 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.663A>C, NM_001281492.1:c.273A>C, NM_001281493.1:c.-244A>C, NM_001281494.1:c.-244A>C r.(?), r.(=) p.(Glu221Asp), p.(Glu91Asp), p.(=)
2 Parent #2 ?/? g.233198504T>C - DIS3L2_000008 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9551T>C, NM_152383.4:c.2011-46T>C r.(=) p.(=)
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.14220043C>A - XPC_000037 rs376802950 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.26G>T, NM_004628.4:c.26G>T r.(?) p.(Gly9Val)
3 Parent #2 ./. g.114362749C>T - chr3_000015 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.6026829A>T - PMS2_000029 rs63751132 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1567T>A r.(?) p.(Ser523Thr)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ?/? g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-43T>C r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
13 Parent #2 -/- g.32911547C>G - BRCA2_000022 rs55638633 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3055C>G r.(?) p.(Leu1019Val)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 +/+ g.41199696G>A [Apostolou et al. 2020] BRCA1_000025 rs397509283 - Germline - - Crete, Minor Asia Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5431C>T, NM_007297.3:c.5290C>T, NM_007298.3:c.2119C>T, NM_007299.3:c.2045C>T, NM_007300.3:c.5494C>T r.(?) p.(Gln1811*), p.(Gln1764*), p.(Gln707*), p.(Ala682Val), p.(Gln1832*)
X Parent #2 ./. g.51210061T>C - chrX_000001 - - - - - - - Despoina Kalfakakou - - - -
Legend