Individual #00016717

Reference -
Gender F
Geographic origin Ampelonas, Elis
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     
0000008934 50y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou
0000008935 50y - - N/A In Situ N/A N/A N/A N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000375 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.232995439T>G - DIS3L2_000015 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+10T>G, NM_001257282.1:c.712T>G, NM_152383.4:c.702+10T>G r.(=), r.(?) p.(=), p.(Tyr238Asp)
3 Parent #2 ./. g.10070369T>C - FANCD2_000051 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.28T>C, NM_033084.3:c.28T>C r.(?) p.(Ser10Pro)
5 Parent #2 ./. g.112179153C>G - APC_000015 rs72541816 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.7862C>G, NM_001127510.2:c.7862C>G, NM_001127511.2:c.7808C>G r.(?) p.(Ser2621Cys), p.(Ser2603Cys)
10 Parent #2 ./. g.43602028G>A - RET_000025 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1063+9G>A, NM_020975.4:c.1063+9G>A r.(=) p.(=)
10 Parent #2 ./. g.88651875C>T - BMPR1A_000013 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.231-9C>T r.(=) p.(=)
11 Parent #2 ./. g.32456784C>G - WT1_000005 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
12 Parent #2 ./. g.58145235T>A - CDK4_000006 - - - - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.218+48A>T r.(=) p.(=)
13 Parent #2 ./. g.48954153C>A - RB1_000012 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
15 Parent #2 ./. g.89805020A>G - FANCI_000027 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.446-32A>G, NM_018193.2:c.446-32A>G r.(=) p.(=)
16 Parent #2 ./. g.3632347T>C - SLX4_000011 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5501A>G r.(?) p.(Asn1834Ser)
19 Parent #2 ./. g.45873495C>T - ERCC2_000030 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.6-5G>A, NM_001130867.1:c.-72G>A r.spl?, r.(=) p.?, p.(=)
22 Parent #2 ./. g.29099571A>G - CHEK2_000022 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.976-17T>C, NM_001257387.1:c.184-17T>C, NM_007194.3:c.847-17T>C, NM_145862.2:c.847-17T>C r.(=) p.(=)
Legend