Individual #00017067

Reference -
Gender F
Geographic origin Epirus
Geographic origin Asia Minor
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     
0000009407 53y - - Ductal Invasive II N/A Positive Negative Positive - - - Despoina Kalfakakou
0000009408 35y - - Ductal Invasive II N/A N/A N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000796 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.29448474T>C - ALK_000012 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3068-43A>G r.(=) p.(=)
3 Parent #2 ./. g.14199720G>T - XPC_000040 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1552C>A, NM_004628.4:c.1663C>A r.(?) p.(Pro518Thr), p.(Pro555Thr)
7 Parent #2 ./. g.116371827G>A - MET_000033 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1306G>A, NM_001127500.1:c.1306G>A r.(?) p.(Glu436Lys)
10 Parent #2 ./. g.88683202G>A - BMPR1A_000020 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1412G>A r.(?) p.(Arg471His)
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.(=)
13 Parent #2 ./. g.103504420G>A - ERCC5_000011 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.89-48G>A r.(=) p.(=)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
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.68835754G>A - CDH1_000006 rs1801023 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
16 Parent #2 ./. g.68845646G>A - CDH1_000011 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.892G>A r.(?) p.(Ala298Thr)
16 Parent #2 ./. g.89862388A>G - FANCA_000097 rs75501942 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.932T>C, NM_001018112.1:c.*3099T>C r.(?), r.(=) p.(Ile311Thr), p.(=)
Legend