Individual #00016897

Reference -
Gender F
Geographic origin Pigi, Cyprus
Geographic origin Neta, Cyprus
Population Cypriot
Consanguinity no
Remarks -
Panel size 4
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     
0000009173 45y - - Ductal Invasive II N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000640 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     
2 Parent #2 ./. g.8178761T>A - chr2_000004 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.48032717T>A - MSH6_000003 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
7 Parent #2 ./. g.6018185A>G - PMS2_000061 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2275+42T>C r.(=) p.(=)
7 Parent #2 ./. g.6043612C>T - PMS2_000056 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.241G>A r.(?) p.(Glu81Lys)
7 Parent #2 ./. g.55229219T>G - EGFR_000044 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1526T>G, NM_201282.1:c.1526T>G, NM_201283.1:c.*4683T>G, NM_201284.1:c.1526T>G r.(?), r.(=) p.(Leu509Trp), p.(=)
9 Parent #2 ./. g.21974859C>G - CDKN2A_000013 - - - - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.-33G>C, NM_001195132.1:c.-33G>C, NM_058195.3:c.194-3652G>C, NM_058197.4:c.-33G>C r.(=) p.(=)
11 Parent #2 ./. g.22646550C>T - FANCF_000012 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.807G>A r.(=) p.(=)
13 Parent #2 ./. g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ./. g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1333-29C>T r.(=) p.(=)
13 Parent #2 ./. g.49050826G>A - RB1_000001 rs4151624 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
14 Parent #2 ./. g.45606290C>T - FANCM_000011 rs77374493 - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.527C>T r.(?) p.(Thr176Ile)
15 Parent #2 ./. g.91303534A>T - BLM_000053 rs28385010 - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1220+25A>T r.(=) p.(=)
16 Parent #2 ./. g.2138663_2138666del - TSC2_000007 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.*52_*55del, NM_001077183.1:c.*52_*55del, NM_001114382.1:c.*52_*55del r.(=) p.(=)
16 Parent #2 ./. g.23614913A>T - PALB2_000022 rs62625284 - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.3428T>A r.(?) p.(Leu1143His)
17 Parent #2 ./. g.29554652G>A - NF1_000155 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2409+28G>A, NM_001042492.2:c.2409+28G>A, NM_001128147.2:c.*5644G>A r.(=) p.(=)
Legend