Individual #00016486

Reference -
Gender F
Geographic origin -
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008583 56y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou
0000008584 29y - - Ductal Invasive III N/A N/A N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000204 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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.17350567G>A - SDHB_000009 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.543C>T r.(=) p.(=)
2 Parent #2 ./. g.47613768A>G - EPCAM_000008 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.*16A>G r.(=) p.(=)
2 Parent #2 ./. g.48033792_48033795del - MSH6_000018 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.4001+2_4001+5del, NM_001281492.1:c.3611+2_3611+5del, NM_001281493.1:c.3095+2_3095+5del, NM_001281494.1:c.3095+2_3095+5del r.(=) p.(=)
3 Parent #2 ./. g.10127653A>G - FANCD2_000034 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3335+47A>G, NM_033084.3:c.3335+47A>G r.(=) p.(=)
3 Parent #2 ./. g.14200368A>G - XPC_000027 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.904T>C, NM_004628.4:c.1015T>C r.(=) p.(=)
4 Parent #2 ./. g.55593995C>T - KIT_000015 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1781C>T, NM_001093772.1:c.1769C>T r.(?) p.(Thr594Ile), p.(Thr590Ile)
5 Parent #2 ./. g.112173250G>A - APC_000010 rs72541809 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
8 Parent #2 ./. g.90958547G>A - NBN_000007 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1915-24C>T r.(=) p.(=)
8 Parent #2 ./. g.145737373C>T - RECQL4_000021 rs36078464 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3315G>A - p.?
11 Parent #2 ./. g.44193138A>G - EXT2_000016 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1273-23A>G, NM_001178083.1:c.1267-86A>G, NM_207122.1:c.1174-23A>G r.(=) p.(=)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.40491888A>G - BUB1B_000004 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.1361A>G r.(?) p.(Lys454Arg)
16 Parent #2 ./. g.23646141_23646142insTCA - PALB2_000005 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1684+41_1684+42insTGA r.(=) p.(=)
16 Parent #2 ./. g.50825440T>C - CYLD_000001 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2100-29T>C, NM_001042412.1:c.2100-29T>C, NM_015247.2:c.2109-29T>C r.(=) p.(=)
17 Parent #2 ./. g.41219619G>C - BRCA1_000029 rs80358032 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.5074+6C>G, NM_007297.3:c.4933+6C>G, NM_007298.3:c.1762+6C>G, NM_007299.3:c.1762+6C>G, NM_007300.3:c.5137+6C>G r.(=) p.(=)
17 Parent #2 ./. g.41234451G>A - BRCA1_000011 rs41293455 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4327C>T, NM_007297.3:c.4186C>T, NM_007298.3:c.1018C>T, NM_007299.3:c.1018C>T, NM_007300.3:c.4327C>T r.(?) p.(Arg1443*), p.(Arg1396*), p.(Arg340*)
17 Parent #2 ./. g.56772304C>G - RAD51C_000011 - - - - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.158C>G, NM_058216.2:c.158C>G r.(?) p.(Ser53Cys)
22 Parent #2 ./. g.29130471G>T - CHEK2_000027 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.239C>A, NM_001257387.1:c.-539C>A, NM_007194.3:c.239C>A, NM_145862.2:c.239C>A r.(=), r.(?) p.(=), p.(Pro80His)
Legend