Individual #00016761

Reference -
Gender F
Geographic origin Liksouri
Geographic origin Liti, Thessaloniki
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     
0000008995 50y - - N/A N/A N/A N/A N/A N/A N/A - - - Despoina Kalfakakou
0000008996 39y - - N/A N/A N/A N/A N/A N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000420 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
5 Parent #2 ./. g.112151320A>G - APC_000022 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.933+30A>G, NM_001127510.2:c.933+30A>G, NM_001127511.2:c.879+30A>G r.(=) p.(=)
5 Parent #2 ./. g.112175240G>C - APC_000031 rs1801166 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3949G>C, NM_001127510.2:c.3949G>C, NM_001127511.2:c.3895G>C r.(?) p.(Glu1317Gln), p.(Glu1299Gln)
5 Parent #2 ./. g.112176556G>A - APC_000006 rs34506289 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5265G>A, NM_001127510.2:c.5265G>A, NM_001127511.2:c.5211G>A r.(=) p.(=)
7 Parent #2 ./. g.6042307C>T - PMS2_000034 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
7 Parent #2 ./. g.116411908G>A - MET_000013 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.2893G>A, NM_001127500.1:c.2947G>A r.(?) p.(Gly965Ser), p.(Gly983Ser)
11 Parent #2 ./. g.108192015T>C - ATM_000071 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6453-13T>C r.(=) p.(=)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
17 Parent #2 ./. g.29556201C>G - NF1_000006 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 ./. g.29560209A>G - NF1_000058 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3686A>G, NM_001042492.2:c.3686A>G r.(?) p.(Asn1229Ser)
17 Parent #2 ./. g.29588823C>T - NF1_000067 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4609C>T, NM_001042492.2:c.4672C>T r.(?) p.(His1537Tyr), p.(His1558Tyr)
17 Parent #2 ./. g.29588826T>C - NF1_000068 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4612T>C, NM_001042492.2:c.4675T>C r.(?) p.(Trp1538Arg), p.(Trp1559Arg)
22 Parent #2 ./. g.29083909T>C - CHEK2_000010 rs17886242 - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1737A>G, NM_001257387.1:c.945A>G, NM_007194.3:c.1608A>G, NM_145862.2:c.1521A>G r.(=) p.(=)
Legend