Individual #00016910

Reference -
Gender F
Geographic origin Aptera, Chania
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 5
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     
0000009193 54y - - Ductal Invasive I N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000665 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.176684158G>A - NSD1_000035 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4966+6G>A, NM_172349.2:c.4159+6G>A r.(=) p.(=)
7 Parent #2 ./. g.66453348T>C - SBDS_000005 rs11557421 - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
9 Parent #2 ./. g.35074241G>T - FANCG_000009 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1761-28C>A r.(=) p.(=)
13 Both (homozygous) ./. g.32911547C>G - BRCA2_000022 rs55638633 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3055C>G r.(?) p.(Leu1019Val)
13 Parent #2 ./. g.48954153C>A - RB1_000012 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-36C>A r.(=) p.(=)
13 Parent #2 ./. g.48954156C>A - RB1_000018 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-33C>A r.(=) p.(=)
16 Parent #2 ./. g.2098760T>C - TSC2_000131 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.138+6T>C, NM_001077183.1:c.138+6T>C, NM_001114382.1:c.138+6T>C r.(=) p.(=)
16 Parent #2 ./. g.68855966G>A - CDH1_000014 rs35187787 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
17 Parent #2 ./. g.29486139G>A - NF1_000190 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.288+28G>A, NM_001042492.2:c.288+28G>A, NM_001128147.2:c.288+28G>A r.(=) p.(=)
17 Parent #2 ./. g.29541589A>G - NF1_000056 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1513A>G, NM_001042492.2:c.1513A>G, NM_001128147.2:c.1513A>G r.(?) p.(Lys505Glu)
17 Parent #2 ./. g.29550633A>G - NF1_000177 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1845+48A>G, NM_001042492.2:c.1845+48A>G, NM_001128147.2:c.*1625A>G r.(=) p.(=)
17 Parent #2 ./. g.29557990G>A - NF1_000171 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3197+47G>A, NM_001042492.2:c.3197+47G>A r.(=) p.(=)
17 Parent #2 ./. g.29557993A>G - NF1_000172 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3197+50A>G, NM_001042492.2:c.3197+50A>G r.(=) p.(=)
Legend