Individual #00017261

Reference -
Gender F
Geographic origin Larisa
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     
0000009670 55y - - Ductal Invasive II N/A Positive Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000919 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     
4 Parent #2 ./. g.55593538A>G - KIT_000030 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1648-44A>G, NM_001093772.1:c.1636-44A>G r.(=) p.(=)
7 Parent #2 ./. g.116371715A>T - MET_000039 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1201-7A>T, NM_001127500.1:c.1201-7A>T r.(=) p.(=)
7 Parent #2 ./. g.148524327A>G - EZH2_000033 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.657T>C, NM_001203248.1:c.630T>C, NM_001203249.1:c.630T>C, NM_004456.4:c.657T>C, NM_152998.2:c.540T>C r.(=) p.(=)
11 Parent #2 ./. g.47254345T>G - DDB2_000016 - - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.457-20T>G r.(=) p.(=)
11 Parent #2 ./. g.67257475C>T - AIP_000020 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.469-34C>T r.(=) p.(=)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.23634273A>G - PALB2_000009 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2996+17T>C r.(=) p.(=)
16 Parent #2 ./. g.89815038G>A - FANCA_000026 rs1800348 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
17 Parent #2 ./. g.29685957G>A - NF1_000124 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.8051-30G>A, NM_001042492.2:c.8114-30G>A r.(=) p.(=)
17 Parent #2 ./. g.74471258C>T - RHBDF2_000001 rs62085019 - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1116-35G>A, NM_024599.5:c.1203-35G>A r.(=) p.(=)
20 Parent #2 ./. g.62318225del - chr20_000011 - - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 ./. g.29120915T>A - CHEK2_000004 rs17881298 - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.721+50A>T, NM_001257387.1:c.-186+50A>T, NM_007194.3:c.592+50A>T, NM_145862.2:c.592+50A>T r.(=) p.(=)
Legend